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240 genes
DNA Metabolic Health Test
Test type
Lab Test
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Saliva
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See allThe GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analysing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalised recommendations based on your genetics.
The sample is easily collected via a saliva test and sent to our lab for analysis. The price includes return shipping to the lab. Within 6-8 weeks, you’ll receive your detailed results digitally.
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- In stock
- At-home test
- Results 6-8 weeks
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What is analysed in the test?
Metabolic Rate
ACANADAMTS10ASPRV1CCND2CCND3CDKN1CCOQ5DLG5FANCCHMGA2MC4RMGAPAMPARD3BPPA2RPS20SH3YL1TP53ZBTB26
ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development.
ADAMTS10 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10): ADAMTS10 is a member of the ADAMTS protein family, which is involved in the processing and remodeling of extracellular matrix components. ADAMTS10 plays a role in tissue development and repair, particularly in cartilage and bone. Mutations in ADAMTS10 can lead to connective tissue disorders and skeletal abnormalities.
ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. The specific function of ASPRV1 is still being investigated, but it may play a role in proteolytic processes within cells. Further research is needed to fully understand its function and implications.
CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and is involved in cell cycle regulation. It forms complexes with cyclin-dependent kinases (CDKs) and regulates the progression of the cell cycle from G1 to S phase. Dysregulation of CCND2 can contribute to uncontrolled cell growth and is associated with various cancers.
CCND3 (Cyclin D3): Similar to CCND2, CCND3 is a cyclin involved in cell cycle regulation. It also plays a role in the progression from G1 to S phase of the cell cycle. Dysfunctions in CCND3 are associated with certain cancers, particularly lymphomas and leukemias.
CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C): CDKN1C encodes a cyclin-dependent kinase inhibitor, p57^Kip2, which regulates the cell cycle by inhibiting the activity of cyclin-CDK complexes. Mutations in CDKN1C can lead to overgrowth disorders such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome. It is a critical gene in the regulation of cell growth and development.
COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 is involved in the biosynthesis of coenzyme Q (CoQ), a molecule essential for mitochondrial energy production. It catalyzes a key step in the CoQ biosynthetic pathway. Mutations in COQ5 can lead to CoQ deficiency, which has implications in mitochondrial diseases and energy metabolism disorders.
DLG5 (Discs Large Homolog 5): DLG5 is a member of the Discs Large (DLG) protein family and is involved in the organization of cellular structures and signal transduction at cell junctions. It plays a role in maintaining epithelial cell integrity and may have implications in inflammatory bowel diseases (IBD) such as Crohn's disease.
FANCC (Fanconi Anemia Complementation Group C): FANCC is part of the Fanconi anemia (FA) pathway, essential for DNA repair and the maintenance of genomic stability. Mutations in FANCC can cause Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and an increased risk of cancer.
HMGA2 (High Mobility Group AT-Hook 2): HMGA2 encodes a high mobility group protein that interacts with DNA and chromatin to regulate gene expression. It plays a role in embryonic development and cell differentiation. Alterations in HMGA2 are associated with various cancers, including benign tumors such as lipomas and aggressive malignancies like certain types of sarcomas.
MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments.
MGA (MAX Gene Associated): MGA is a large transcription factor involved in the regulation of cell growth and division. It is part of a network of genes that control cell cycle progression and has been implicated in the development of certain cancers, as it can interact with oncogenes and tumor suppressor genes.
PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM encodes an enzyme involved in the amidation of peptide hormones, a critical step in the maturation of neuropeptides and peptide hormones. It plays a role in neurotransmitter synthesis and hormone production. Dysregulation of PAM can impact neuropeptide function and hormonal signaling.
PARD3B (Par-3 Family Cell Polarity Regulator Beta): PARD3B is involved in the establishment of cell polarity and the formation of tight junctions in epithelial cells. It plays a crucial role in tissue organization and barrier function. Mutations in PARD3B can lead to developmental disorders affecting tissue structure and integrity.
PPA2 (Inorganic Pyrophosphatase 2): PPA2 encodes an enzyme called inorganic pyrophosphatase, which catalyzes the hydrolysis of pyrophosphate (PPi) to inorganic phosphate (Pi). This enzymatic activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunctions in PPA2 may impact energy production and nucleotide metabolism.
RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein involved in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and plays a crucial role in translation. Mutations in ribosomal proteins like RPS20 can lead to ribosomopathies, a group of disorders characterized by defective ribosome function and developmental abnormalities.
SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics.
TP53 (Tumor Protein P53): TP53 is one of the most well-known tumor suppressor genes. It encodes the p53 protein, which plays a central role in preventing the development of cancer. p53 regulates cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are associated with a wide range of cancers, making it a critical gene in cancer research and therapy.
ZBTB26 (Zinc Finger And BTB Domain Containing 26): ZBTB26 is a gene that encodes a transcription factor with zinc finger and BTB (Broad-Complex, Tramtrack, Bric-a-Brac) domains. It is involved in the regulation of gene expression and may play a role in developmental processes and immune responses. Further research is needed to fully understand its function and implications.
Visceral Fat
ACANADAMTS10ADCY3ADH1BADARB1AS3MTFTOGNPDA2LINGO2LIN7CMC4RMEF2CMFSD10PAMPARD3BPDE4CPPA2RPS20RSPO3SEC16BSH3YL1SNX11TP53ZBTB26
ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development.
ADAMTS10 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10): ADAMTS10 is a member of the ADAMTS protein family, which is involved in the processing and remodeling of extracellular matrix components. ADAMTS10 plays a role in tissue development and repair, particularly in cartilage and bone. Mutations in ADAMTS10 can lead to connective tissue disorders and skeletal abnormalities.
ADCY3 (Adenylate Cyclase 3): ADCY3 encodes an enzyme called adenylate cyclase 3, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY3 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways.
ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases.
ADARB1 (Adenosine Deaminase RNA-Specific B1): ADARB1 is involved in RNA editing, a post-transcriptional modification process that can alter the sequence of RNA molecules. It plays a role in modifying the properties of RNA, including its stability and function. ADARB1 has implications in neurological disorders and the regulation of gene expression.
AS3MT (Arsenic (+3) Methyltransferase): AS3MT is a gene that encodes an enzyme responsible for methylating arsenic, a toxic metalloid. This methylation process is a detoxification mechanism that helps the body eliminate arsenic. AS3MT is important in arsenic metabolism and susceptibility to arsenic-related health issues.
FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity.
GNPDA2 (Glucosamine-6-Phosphate Deaminase 2): GNPDA2 is involved in glucose metabolism and is associated with glycemic control. It plays a role in the conversion of glucosamine-6-phosphate to fructose-6-phosphate, a step in glucose utilization. Variations in GNPDA2 have been linked to type 2 diabetes risk and glucose homeostasis.
LINGO2 (Leucine-Rich Repeat And Ig Domain-Containing 2): LINGO2 is a gene associated with neuronal development and function. It may play a role in axon growth and myelination. Dysregulation of LINGO2 has been implicated in neurological disorders, including Parkinson's disease and essential tremor.
LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is part of the LIN7 family, involved in establishing and maintaining cell polarity, crucial for cell function and tissue organization. It's particularly important in neural and epithelial cells. LIN7C mutations or dysregulation can disrupt cell polarity and signaling, potentially leading to developmental abnormalities or diseases.
MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments.
MEF2C (Myocyte Enhancer Factor 2C): MEF2C is a transcription factor crucial in both muscle development and neuronal differentiation. Mutations in MEF2C are linked to severe mental retardation, autistic features, and epilepsy, highlighting its role in brain development and function. In cardiac muscle, MEF2C is essential for proper heart formation and development, with dysfunctions leading to congenital heart defects.
MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. The specific function of MFSD10 is still being investigated, but it may play a role in nutrient transport and cellular homeostasis.
PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM encodes an enzyme involved in the amidation of peptide hormones, a critical step in the maturation of neuropeptides and peptide hormones. It plays a role in neurotransmitter synthesis and hormone production. Dysregulation of PAM can impact neuropeptide function and hormonal signaling.
PARD3B (Par-3 Family Cell Polarity Regulator Beta): PARD3B is involved in the establishment of cell polarity and the formation of tight junctions in epithelial cells. It plays a crucial role in tissue organization and barrier function. Mutations in PARD3B can lead to developmental disorders affecting tissue structure and integrity.
PDE4C (Phosphodiesterase 4C): PDE4C encodes an enzyme called phosphodiesterase 4C, which is involved in the regulation of intracellular levels of cAMP. It plays a role in cellular signaling and is a target for medications used to treat respiratory diseases such as asthma and chronic obstructive pulmonary disease (COPD).
PPA2 (Inorganic Pyrophosphatase 2): PPA2 encodes an enzyme called inorganic pyrophosphatase, which catalyzes the hydrolysis of pyrophosphate (PPi) to inorganic phosphate (Pi). This enzymatic activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunctions in PPA2 may impact energy production and nucleotide metabolism.
RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein involved in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and plays a crucial role in translation. Mutations in ribosomal proteins like RPS20 can lead to ribosomopathies, a group of disorders characterized by defective ribosome function and developmental abnormalities.
RSPO3 (R-Spondin 3): RSPO3 is part of the R-spondin family, which modulates the Wnt signaling pathway, crucial for embryonic development and cell growth. It has been implicated in various physiological processes, including vascular development and stem cell proliferation. Dysregulation of RSPO3 has been linked to diseases like cancer.
SEC16B (SEC16 Homolog B): SEC16B is involved in the regulation of protein trafficking within cells, particularly in the endoplasmic reticulum (ER)-Golgi transport pathway. It plays a role in the secretion of proteins and has implications in cellular processes such as ER stress response and protein quality control.
SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics.
SNX11 (Sorting Nexin 11): SNX11 is a gene that encodes a protein involved in membrane trafficking and vesicle sorting within cells. It plays a role in endosomal and lysosomal functions. SNX11 is important for cellular processes such as receptor recycling and degradation.
TP53 (Tumor Protein P53): TP53 is one of the most well-known tumor suppressor genes. It encodes the p53 protein, which plays a central role in preventing the development of cancer. p53 regulates cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are associated with a wide range of cancers, making it a critical gene in cancer research and therapy.
ZBTB26 (Zinc Finger And BTB Domain Containing 26): ZBTB26 is a gene that encodes a transcription factor with zinc finger and BTB (Broad-Complex, Tramtrack, Bric-a-Brac) domains. It is involved in the regulation of gene expression and may play a role in developmental processes and immune responses. Further research is needed to fully understand its function and implications.
Weight Regain
ALOX5APAPPBDNFBHLHE40CCKFTOGHRLLEPLEPRPEX11ASH3YL1TFAP2BTUB
ALOX5AP (Arachidonate 5-Lipoxygenase-Activating Protein): ALOX5AP encodes a protein that plays a role in the activation of the enzyme arachidonate 5-lipoxygenase (ALOX5). ALOX5 is involved in the metabolism of arachidonic acid and the production of leukotrienes, which are inflammatory mediators. Variations in ALOX5AP have been associated with cardiovascular diseases and asthma.
APP (Amyloid Precursor Protein): Much like MMP15's involvement in extracellular matrix (ECM) dynamics, APP plays a pivotal role in regulating cellular processes, particularly in the central nervous system. As a transmembrane protein, APP is involved in various physiological functions, including neuronal development, synaptic plasticity, and cell signaling. Moreover, APP processing yields amyloid-beta peptides, which are implicated in the pathogenesis of Alzheimer's disease. The balanced regulation of APP processing and amyloid-beta production is crucial for maintaining neuronal homeostasis and cognitive function. Dysregulation of APP processing, leading to abnormal accumulation of amyloid-beta, is a hallmark of Alzheimer's disease pathology. Thus, understanding the intricate mechanisms governing APP metabolism holds promise for developing therapeutic strategies aimed at mitigating Alzheimer's disease progression.
BDNF (Brain-Derived Neurotrophic Factor): BDNF is a gene that encodes a protein called brain-derived neurotrophic factor, which is crucial for the survival and growth of neurons in the brain. BDNF plays a key role in synaptic plasticity, learning, and memory. Dysregulation of BDNF has been linked to various neurological and psychiatric disorders.
BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in circadian rhythm regulation. It plays a role in the control of the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can impact circadian rhythms and sleep patterns.
CCK (Cholecystokinin): CCK is a gene that encodes cholecystokinin, a peptide hormone involved in digestion and appetite regulation. CCK stimulates the release of digestive enzymes and the contraction of the gallbladder. It also acts as a satiety signal in the brain, influencing food intake.
FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity.
GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone known as the "hunger hormone." Ghrelin stimulates appetite and food intake by acting on the hypothalamus. It plays a role in regulating meal initiation and body weight.
LEP (Leptin): LEP encodes the hormone leptin, which is produced by adipose tissue and plays a key role in regulating energy balance and appetite. Leptin acts on the hypothalamus in the brain to inhibit appetite and stimulate energy expenditure. Dysregulation of leptin or its receptor leads to obesity and metabolic disorders, as it is crucial in the homeostatic control of body weight and fat storage.
LEPR (Leptin Receptor): LEPR is the receptor for the hormone leptin. It's critical in regulating energy intake and expenditure, including appetite and metabolism. Mutations in LEPR can lead to leptin resistance, a condition often observed in obesity, where the body does not adequately respond to leptin signals.
PEX11A (Peroxisomal Biogenesis Factor 11 Alpha): PEX11A is involved in peroxisome biogenesis and dynamics. Peroxisomes are organelles involved in various metabolic processes, including lipid metabolism and detoxification. PEX11A is important for peroxisome proliferation and function.
SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics.
TFAP2B (Transcription Factor AP-2 Beta): TFAP2B plays a crucial role in embryonic development and differentiation. It is a transcription factor involved in the regulation of gene expression. Mutations in this gene can lead to developmental disorders and have been associated with obesity and diabetes.
TUB (Tubby Bipartite Transcription Factor): The TUB gene encodes the Tubby bipartite transcription factor, which is involved in the regulation of appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is particularly significant in the study of metabolic disorders and eye diseases, providing insights into the genetic components of obesity and vision problems.
Overweight
ACANADCY6ADAMTS10COQ5GNPDA2GPR151KCTD15MTCH2NPC1RAD9ARPS20SEC16BSH3YL1STMN4TIMELESSZCCHC14
ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development.
ADCY6 (Adenylate Cyclase 6): ADCY6 encodes an enzyme called adenylate cyclase 6, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY6 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways.
ADAMTS10 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10): ADAMTS10 is a member of the ADAMTS protein family, which is involved in the processing and remodeling of extracellular matrix components. ADAMTS10 plays a role in tissue development and repair, particularly in cartilage and bone. Mutations in ADAMTS10 can lead to connective tissue disorders and skeletal abnormalities.
COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 is involved in the biosynthesis of coenzyme Q (CoQ), a molecule essential for mitochondrial energy production. It catalyzes a key step in the CoQ biosynthetic pathway. Mutations in COQ5 can lead to CoQ deficiency, which has implications in mitochondrial diseases and energy metabolism disorders.
GNPDA2 (Glucosamine-6-Phosphate Deaminase 2): GNPDA2 is involved in glucose metabolism and is associated with glycemic control. It plays a role in the conversion of glucosamine-6-phosphate to fructose-6-phosphate, a step in glucose utilization. Variations in GNPDA2 have been linked to type 2 diabetes risk and glucose homeostasis.
GPR151 (G Protein-Coupled Receptor 151): GPR151 is a gene that encodes a G protein-coupled receptor (GPCR). GPCRs are involved in cell signaling and can respond to various signaling molecules. The specific function of GPR151 is still being investigated, but it may play a role in neural and metabolic processes.
KCTD15 (Potassium Channel Tetramerization Domain Containing 15): KCTD15 is involved in neural development and potassium channel regulation. It plays a role in the assembly of potassium channel complexes, which are important for neuronal excitability. Dysregulation of KCTD15 may impact neural function.
MTCH2 (Mitochondrial Carrier Homolog 2): MTCH2 is a gene associated with mitochondrial function and energy metabolism. It may play a role in mitochondrial transport and metabolism. Further research is needed to fully understand its function and implications.
NPC1 (Niemann-Pick Disease, Type C1): NPC1 is crucial for cholesterol trafficking within cells. Mutations in this gene cause Niemann-Pick disease type C, a rare genetic disorder characterized by the accumulation of cholesterol and other lipids in cells, leading to neurodegeneration and liver dysfunction.
RAD9A (RAD9 Homolog A): RAD9A is involved in DNA repair and cell cycle checkpoint control. It plays a role in maintaining genomic stability and preventing the proliferation of damaged cells. Dysregulation of RAD9A can impact DNA repair processes and contribute to genomic instability.
RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein involved in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and plays a crucial role in translation. Mutations in ribosomal proteins like RPS20 can lead to ribosomopathies, a group of disorders characterized by defective ribosome function and developmental abnormalities.
SEC16B (SEC16 Homolog B): SEC16B is involved in the regulation of protein trafficking within cells, particularly in the endoplasmic reticulum (ER)-Golgi transport pathway. It plays a role in the secretion of proteins and has implications in cellular processes such as ER stress response and protein quality control.
SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics.
STMN4 (Stathmin-Like 4): STMN4 is involved in microtubule dynamics and regulation. It plays a role in the organization of the cytoskeleton and may impact cellular processes such as cell division and intracellular transport.
TIMELESS: TIMELESS is a gene involved in the regulation of circadian rhythms and DNA replication. It interacts with other circadian clock genes to control the body's internal clock and may have implications in sleep-wake cycles and overall circadian regulation.
ZCCHC14 (Zinc Finger, CCHC Domain Containing 14): ZCCHC14 is a gene that encodes a protein with zinc finger and CCHC domains, suggesting a role in nucleic acid binding and regulation. The specific function of ZCCHC14 is still being investigated, and further research is needed to fully understand its role in cellular processes
Fasting Glucose
ADCY5BCL2CDKAL1CDKN2ACCND2DGKBFTOGCKRGIPRHMGA2JAZF1KCNJ11MC4RSLC30A8SLC38A11TAP2TCF7L2
ADCY5 (Adenylate Cyclase 5): ADCY5 encodes an enzyme called adenylate cyclase 5, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY5 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways.
BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, a process of programmed cell death. BCL2 proteins play a crucial role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is implicated in cancer and various diseases.
CDKAL1 (CDK5 Regulatory Subunit-Associated Protein 1-Like 1): CDKAL1 is associated with type 2 diabetes and glucose metabolism. It is involved in the regulation of insulin secretion from pancreatic beta cells and glucose homeostasis. Variations in CDKAL1 have been linked to an increased risk of type 2 diabetes.
CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumor suppressor gene that encodes two proteins, p16INK4A and p14ARF, which play roles in cell cycle regulation and tumor suppression. Mutations in CDKN2A are associated with an increased risk of various cancers, including melanoma and pancreatic cancer.
CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and is involved in cell cycle regulation. It forms complexes with cyclin-dependent kinases (CDKs) and regulates the progression of the cell cycle from G1 to S phase. Dysregulation of CCND2 can contribute to uncontrolled cell growth and is associated with various cancers.
DGKB (Diacylglycerol Kinase Beta): DGKB is an enzyme that converts diacylglycerol into phosphatidic acid, playing a critical role in lipid signaling pathways. It's involved in various cellular processes, including insulin sensitivity, and neurotransmitter signaling. Dysregulation of DGKB has been associated with metabolic disorders and is of interest in the study of diseases like diabetes and obesity.
FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity.
GCKR (Glucokinase Regulator): GCKR is a gene encoding a protein that regulates glucokinase, an enzyme involved in glucose metabolism. Variations in GCKR can influence glucose homeostasis and have been associated with diabetes and other metabolic conditions.
GIPR (Glucose-Dependent Insulinotropic Polypeptide Receptor): GIPR encodes the receptor for glucose-dependent insulinotropic polypeptide (GIP), a hormone that stimulates insulin secretion in response to food intake. GIPR plays a role in glucose metabolism and insulin regulation.
HMGA2 (High Mobility Group AT-Hook 2): HMGA2 encodes a high mobility group protein that interacts with DNA and chromatin to regulate gene expression. It plays a role in embryonic development and cell differentiation. Alterations in HMGA2 are associated with various cancers, including benign tumors such as lipomas and aggressive malignancies like certain types of sarcomas.
JAZF1 (JAZF Zinc Finger 1): JAZF1 is associated with endometrial cancer and reproductive health. It plays a role in the regulation of gene expression and cellular processes in the endometrium.
KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11): KCNJ11 encodes a protein that forms part of the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. KATP channels play a role in insulin secretion and glucose homeostasis. Variations in KCNJ11 are associated with an increased risk of type 2 diabetes.
MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments.
SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is involved in zinc transport and insulin secretion from pancreatic beta cells. It plays a role in glucose homeostasis and is a potential target for the treatment of type 2 diabetes.
SLC38A11 (Solute Carrier Family 38 Member 11): SLC38A11 is involved in amino acid transport and nutrient sensing. It plays a role in the regulation of mTORC1 signaling, which is important for cell growth and metabolism.
TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member): TAP2 is a gene involved in antigen presentation and the immune response. It plays a role in transporting peptides into the endoplasmic reticulum for loading onto major histocompatibility complex (MHC) molecules. TAP2 is important for adaptive immunity.
TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which is important for cell growth and development. Variants in this gene have been strongly associated with the risk of type 2 diabetes, possibly through effects on insulin secretion and glucose metabolism. Its study is crucial for understanding the genetic basis of diabetes and developing potential treatments.
Insulin Resistance
ATP8B1CSMD1CSNK2A1DAAM2FBXO21HAPLN1KCNK17MDGA1ME1MPC1MROH8ORMDO3RAB28RUNX3SORCS1ZIC2
ATP8B1 (ATPase Phospholipid Transporting 8B1): ATP8B1 is a gene that encodes a phospholipid transporter located in the liver cell membrane. It plays a crucial role in maintaining the lipid composition of cell membranes and bile. Mutations in ATP8B1 can result in progressive familial intrahepatic cholestasis (PFIC), a group of liver disorders.
CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene implicated in neural development and functioning. It is thought to play a role in the immune system and in synaptic plasticity. Genetic studies have associated CSMD1 with neuropsychiatric disorders, including schizophrenia and cognitive functions.
CSNK2A1 (Casein Kinase 2 Alpha 1): CSNK2A1 encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in various cellular processes, including cell growth, proliferation, and signal transduction. Dysregulation of CSNK2A1 has been linked to cancer and developmental disorders.
DAAM2 (Dishevelled Associated Activator Of Morphogenesis 2): DAAM2 is involved in the regulation of cytoskeletal dynamics and cell morphology. It plays a role in processes such as cell migration and tissue morphogenesis.
FBXO21 (F-Box Protein 21): FBXO21 is part of the F-box protein family, key components in the ubiquitin-proteasome system, which regulates protein degradation. This gene plays a crucial role in various cellular processes, including cell cycle regulation and signal transduction. Dysregulation of FBXO21 can lead to disorders in protein homeostasis, making it significant in the study of diseases where protein turnover is disrupted, such as neurodegenerative diseases and cancers.
HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1): HAPLN1 is involved in the binding of hyaluronic acid and proteoglycans in the extracellular matrix. It plays a role in tissue integrity and is associated with cartilage and connective tissue function.
KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 encodes a member of the two-pore domain potassium channel family. It plays a role in ion channel function and may be involved in cellular excitability and membrane potential regulation.
MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1): MDGA1 is involved in neural development and cell adhesion. It plays a role in axon guidance and may have implications in neural connectivity and synaptic function.
ME1 (Malic Enzyme 1): ME1 is involved in metabolic processes, specifically in the conversion of malate to pyruvate in the citric acid cycle. It plays a role in energy metabolism and the production of NADPH, which is important for cellular processes such as lipid synthesis.
MPC1 (Mitochondrial Pyruvate Carrier 1): MPC1 is a gene associated with mitochondrial function and energy metabolism. It is involved in the transport of pyruvate into mitochondria for energy production. Dysregulation of MPC1 can impact mitochondrial metabolism.
MROH8 (Maestro Heat Like Repeat Family Member 8): MROH8 is a gene that encodes a protein containing heat-like repeat domains, which are involved in protein-protein interactions. The specific function of MROH8 is still under investigation.
ORMDO3 (Oligoribonuclease, mitochondrial): Much like MMP15's role in regulating the extracellular matrix (ECM) and tissue integrity, ORMDO3 plays a critical role in maintaining cellular homeostasis within the mitochondria, the powerhouse of the cell. ORMDO3 is an essential enzyme involved in RNA degradation, specifically targeting short RNA fragments within the mitochondria. By facilitating the turnover of mitochondrial RNA molecules, ORMDO3 contributes to the regulation of mitochondrial gene expression and ensures proper mitochondrial function. Dysfunction or dysregulation of ORMDO3 activity can lead to mitochondrial RNA accumulation, impairing mitochondrial function and cellular health. Consequently, abnormalities in ORMDO3 have been associated with various mitochondrial disorders, neurodegenerative diseases, and metabolic syndromes. Understanding the precise mechanisms underlying ORMDO3-mediated mitochondrial RNA turnover may offer insights into mitochondrial dysfunction-related pathologies and potential therapeutic strategies for these disorders.
RAB28 (Ras-Related Protein Rab-28): RAB28 is a member of the RAB family of small GTPases, which are involved in intracellular vesicle trafficking. RAB28 plays a role in vesicle transport and membrane dynamics.
RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a transcription factor involved in the regulation of gene expression. It plays a role in various cellular processes, including cell differentiation and immune response. Dysregulation of RUNX3 has been associated with cancer and developmental disorders.
SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting. It plays a role in the regulation of receptor signaling and may have implications in neural development and synaptic function.
ZIC2 (Zic Family Member 2): ZIC2 is a transcription factor that plays a crucial role in neural development, particularly in the formation of the midbrain and hindbrain. Mutations in ZIC2 are associated with holoprosencephaly, a developmental disorder affecting brain and facial development.
HbA1c
ADCY5ANKHARPC1BCCND1CCND2FN3KRPG6PC2GLP1RGYPCH2BC5HNRNPUL1KELMSTNPFKLPFKMSOS2THADAUBE2V2
ADCY5 (Adenylate Cyclase 5): ADCY5 encodes an enzyme called adenylate cyclase 5, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY5 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways.
ANKH (Ankylosis Homolog): ANKH is associated with a genetic disorder called familial chondrocalcinosis, which leads to the deposition of calcium crystals in joints, resulting in painful arthritis. ANKH encodes a protein that is involved in the regulation of extracellular inorganic pyrophosphate levels, which can influence joint health and mineralization of cartilage and bone tissues.
ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B): ARPC1B is a gene that encodes a subunit of the actin-related protein 2/3 (ARP2/3) complex, which plays a crucial role in actin cytoskeleton organization and cell motility. Mutations in ARPC1B can lead to a rare immunodeficiency disorder known as ARPC1B deficiency, which affects immune cell function and host defense against infections.
CCND1 (Cyclin D1): CCND1 encodes cyclin D1, a critical protein involved in cell cycle regulation. Cyclins, including cyclin D1, orchestrate the progression of the cell cycle, and CCND1 is particularly important for driving cell division and proliferation. Dysregulation of CCND1 is frequently implicated in various cancers, making it a noteworthy oncogene.
CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and is involved in cell cycle regulation. It forms complexes with cyclin-dependent kinases (CDKs) and regulates the progression of the cell cycle from G1 to S phase. Dysregulation of CCND2 can contribute to uncontrolled cell growth and is associated with various cancers.
FN3KRP (Fructosamine 3 Kinase-Related Protein): FN3KRP is associated with fructosamine metabolism and may have a role in the regulation of glucose levels. It is related to the enzyme fructosamine 3 kinase and may have implications in glycation processes, which are involved in the formation of advanced glycation end-products (AGEs) and their impact on diabetes and aging-related diseases.
G6PC2 (Glucose-6-Phosphatase Catalytic Subunit 2): G6PC2 is involved in glucose metabolism and catalyzes the hydrolysis of glucose-6-phosphate to glucose. It plays a pivotal role in glucose homeostasis by regulating blood glucose levels, making it a significant contributor to overall metabolic health.
GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R encodes the receptor for glucagon-like peptide 1 (GLP-1), a hormone that regulates insulin secretion and glucose metabolism. Activation of GLP1R by GLP-1 or GLP-1 analogs enhances insulin release, suppresses glucagon secretion, and promotes satiety, making it a key target for medications used to treat type 2 diabetes and obesity.
GYPC (Glycophorin C): GYPC encodes glycophorin C, a protein found on the surface of red blood cells. It is an essential component of the blood group antigens system and plays a critical role in determining blood type compatibility for transfusions. Understanding GYPC variants is crucial in blood transfusion medicine.
H2BC5 (Histone Cluster 2, H2bc5): H2BC5 is a member of the histone H2B family, which comprises proteins that play essential roles in packaging and organizing DNA within the nucleus of eukaryotic cells. Histone proteins, including H2BC5, form complexes with DNA to create chromatin, the structural unit of chromosomes. Within chromatin, histones undergo various post-translational modifications that regulate gene expression, DNA replication, and repair.
H2BC5 is specifically involved in the formation of nucleosomes, which are the basic repeating units of chromatin structure. Nucleosomes consist of DNA wrapped around a core of histone proteins, including H2BC5. These nucleosomes can undergo dynamic changes in structure and composition to allow access to DNA for processes such as transcription, DNA replication, and repair.
Dysregulation of histone proteins, including H2BC5, has been implicated in various diseases, including cancer and developmental disorders. Understanding the role of H2BC5 in chromatin organization and gene regulation is essential for elucidating the molecular mechanisms underlying these diseases and for developing potential therapeutic interventions targeting histone proteins. Further research into the function and regulation of H2BC5 may provide valuable insights into its role in health and disease.
HNRNPUL1 (Heterogeneous Nuclear Ribonucleoprotein U Like 1): HNRNPUL1 is involved in RNA processing and splicing. It is part of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, which plays a central role in the regulation of gene expression through pre-mRNA splicing and post-transcriptional modifications.
KEL (Kell Blood Group): KEL is associated with blood group antigens and is involved in blood transfusion compatibility. It plays a crucial role in antigenic determinants on the surface of red blood cells, influencing transfusion reactions and compatibility assessments.
MSTN (Myostatin): MSTN encodes myostatin, a protein that acts as a negative regulator of muscle growth and development. Inhibition of myostatin activity is associated with increased muscle mass and strength, making MSTN an attractive target for therapies aimed at promoting muscle growth and treating muscle-wasting conditions.
PFKL (Phosphofructokinase, Liver Type): PFKL is involved in glycolysis, a fundamental metabolic pathway that converts glucose into energy. PFKL plays a vital role in glucose metabolism and energy production, particularly in the liver, where it contributes to glucose utilization and storage.
PFKM (Phosphofructokinase, Muscle): PFKM is another gene involved in glycolysis and glucose metabolism, specifically in muscle tissue. It plays a pivotal role in providing energy during physical activity and muscle contraction, making it essential for muscle function.
SOS2 (Son of Sevenless Homolog 2): SOS2 is involved in cell signaling and the activation of the Ras/MAPK pathway. It serves as a crucial mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to various physiological processes and cellular outcomes.
THADA (Thyroid Adenoma Associated): THADA is associated with thyroid adenomas, a type of thyroid tumor. It may play a role in thyroid tumorigenesis and has been implicated in thyroid cancer development, making it a target for further investigation in the context of thyroid diseases.
UBE2V2 (Ubiquitin-Conjugating Enzyme E2 Variant 2): UBE2V2 is involved in the ubiquitin-proteasome system, a highly regulated pathway responsible for protein degradation and turnover. UBE2V2 participates in the conjugation of ubiquitin molecules to target proteins, marking them for degradation, thereby influencing cellular processes, protein stability, and response to cellular stress.
Low Blood Sugar
ADRA2AC2CD4BCARD9FOXA2G6PC2GCKGCKRGLIS3KLMTNR1BPDE6CPEAK1PROX1RGS17SLC30A8TCF7L2TOP1URADZBED3
ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A encodes a protein called alpha-2 adrenergic receptor 2A, which is a member of the G protein-coupled receptor family. It plays a crucial role in regulating the response to the neurotransmitter norepinephrine. ADRA2A is involved in various physiological processes, including blood pressure regulation, vasoconstriction, and the fight-or-flight response.
C2CD4B (C2 Calcium-Dependent Domain Containing 4B): C2CD4B is a gene that encodes a protein containing C2 calcium-dependent domains. These domains are often associated with proteins involved in calcium-mediated cellular processes. While the specific function of C2CD4B is still under investigation, its presence suggests potential involvement in calcium signaling pathways and membrane dynamics. Further research is needed to elucidate its precise role in cellular processes.
CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene involved in innate immune signaling. It encodes a protein that contains a caspase recruitment domain (CARD) and plays a role in immune responses to fungal pathogens. CARD9 is a key player in the activation of immune cells and the production of cytokines in response to fungal infections.
FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a pivotal role in the development of various tissues, including the liver, pancreas, and lung. This transcription factor is involved in the regulation of genes related to metabolism, development, and differentiation. In the pancreas, FOXA2 is crucial for the development and function of insulin-producing beta cells. It plays a key role in maintaining glucose homeostasis by regulating the expression of genes involved in insulin secretion and glucose metabolism.
G6PC2 (Glucose-6-Phosphatase Catalytic Subunit 2): G6PC2 is involved in glucose metabolism and catalyzes the hydrolysis of glucose-6-phosphate to glucose. It plays a pivotal role in glucose homeostasis by regulating blood glucose levels, making it a significant contributor to overall metabolic health.
GCK (Glucokinase): GCK encodes the enzyme glucokinase, which is a central regulator of glucose metabolism. Glucokinase is responsible for catalyzing the first step in glucose utilization in the liver and pancreatic beta cells. It is unique in its role as a glucose sensor, and its activity is essential for glucose sensing, insulin secretion, and overall glucose homeostasis.
GCKR (Glucokinase Regulator): GCKR is a gene encoding a protein that regulates glucokinase, an enzyme involved in glucose metabolism. Variations in GCKR can influence glucose homeostasis and have been associated with diabetes and other metabolic conditions.
GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor that plays a significant role in the regulation of gene expression in various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been linked to a range of disorders, including congenital hypothyroidism and neonatal diabetes, underscoring its importance in endocrine function and development.
KL (Klotho): KL encodes the klotho protein, which is involved in aging and longevity. Klotho has been associated with the regulation of calcium and phosphate metabolism, as well as its role in suppressing aging-related processes. This gene is of great interest in aging research and may hold clues to extending human lifespan and improving age-related health.
MTNR1B (Melatonin Receptor 1B): MTNR1B encodes one of the receptors for melatonin, a hormone that regulates sleep and circadian rhythms. This gene plays a crucial role in maintaining the body's internal clock and is also implicated in glucose homeostasis. Variations in MTNR1B have been linked to an increased risk of type 2 diabetes and disrupted sleep patterns.
PDE6C (Phosphodiesterase 6C): PDE6C encodes a subunit of phosphodiesterase 6, an enzyme that is essential for phototransduction in the retina. Phototransduction is the process by which light signals are converted into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C can lead to visual impairments and retinal disorders, emphasizing its critical role in visual perception.
PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signaling and cytoskeletal dynamics. It plays a significant role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been associated with cancer progression and metastasis, as it promotes tumor cell mobility and invasion into surrounding tissues.
PROX1 (Prospero Homeobox 1): PROX1 is a transcription factor that regulates gene expression and is involved in various developmental processes. It plays a pivotal role in lymphatic vessel development, liver development, and cell fate determination. In the context of the lymphatic system, PROX1 is a master regulator of lymphatic endothelial cell differentiation and maintenance.
RGS17 (Regulator Of G Protein Signaling 17): RGS17 encodes a protein belonging to the regulator of G protein signaling (RGS) family. RGS proteins play a critical role in modulating G protein-coupled receptor (GPCR) signaling by accelerating the hydrolysis of GTP to GDP. RGS17, specifically, may have implications in various signaling pathways regulated by GPCRs, influencing diverse physiological processes.
SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is involved in zinc transport and insulin secretion from pancreatic beta cells. It plays a role in glucose homeostasis and is a potential target for the treatment of type 2 diabetes.
TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which is important for cell growth and development. Variants in this gene have been strongly associated with the risk of type 2 diabetes, possibly through effects on insulin secretion and glucose metabolism. Its study is crucial for understanding the genetic basis of diabetes and developing potential treatments.
TOP1 (DNA Topoisomerase I): TOP1 encodes the enzyme DNA topoisomerase I, which plays a crucial role in DNA replication and repair. This enzyme is responsible for relieving torsional stress in DNA strands by introducing transient breaks in the DNA double helix. TOP1 is essential for maintaining genomic stability and ensuring accurate DNA replication and transcription.
URAD (Ureidoimidazole-4-Carboxamide Ribonucleotide Decarboxylase): URAD is involved in the de novo synthesis of purine nucleotides, which are essential for DNA and RNA production. It plays a role in nucleotide metabolism and is critical for cell proliferation and growth.
ZBED3 (Zinc Finger BED-Type Containing 3): ZBED3 is a gene that encodes a zinc finger protein, a type of protein domain involved in gene regulation. While specific functions of ZBED3 are still being elucidated, zinc finger proteins are known to bind to DNA and influence gene expression. ZBED3 may play a role in modulating gene activity, contributing to various cellular processes and pathways.
High Blood Sugar
ADCY5BCL2CDKAL1CDKN2ACCND2DGKBFTOGCKRGIPRHMGA2JAZF1KCNJ11MC4RSLC30A8SLC38A11TAP2TCF7L2TSPAN3
ADCY5 (Adenylate Cyclase 5): ADCY5 encodes an enzyme called adenylate cyclase 5, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY5 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways.
BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, a process of programmed cell death. BCL2 proteins play a crucial role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is implicated in cancer and various diseases.
CDKAL1 (CDK5 Regulatory Subunit-Associated Protein 1-Like 1): CDKAL1 is associated with type 2 diabetes and glucose metabolism. It is involved in the regulation of insulin secretion from pancreatic beta cells and glucose homeostasis. Variations in CDKAL1 have been linked to an increased risk of type 2 diabetes.
CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumor suppressor gene that encodes two proteins, p16INK4A and p14ARF, which play roles in cell cycle regulation and tumor suppression. Mutations in CDKN2A are associated with an increased risk of various cancers, including melanoma and pancreatic cancer.
CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and is involved in cell cycle regulation. It forms complexes with cyclin-dependent kinases (CDKs) and regulates the progression of the cell cycle from G1 to S phase. Dysregulation of CCND2 can contribute to uncontrolled cell growth and is associated with various cancers.
DGKB (Diacylglycerol Kinase Beta): DGKB is an enzyme that converts diacylglycerol into phosphatidic acid, playing a critical role in lipid signaling pathways. It's involved in various cellular processes, including insulin sensitivity, and neurotransmitter signaling. Dysregulation of DGKB has been associated with metabolic disorders and is of interest in the study of diseases like diabetes and obesity.
FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity.
GCKR (Glucokinase Regulator): GCKR is a gene encoding a protein that regulates glucokinase, an enzyme involved in glucose metabolism. Variations in GCKR can influence glucose homeostasis and have been associated with diabetes and other metabolic conditions.
GIPR (Glucose-Dependent Insulinotropic Polypeptide Receptor): GIPR encodes the receptor for glucose-dependent insulinotropic polypeptide (GIP), a hormone that stimulates insulin secretion in response to food intake. GIPR plays a role in glucose metabolism and insulin regulation.
HMGA2 (High Mobility Group AT-Hook 2): HMGA2 encodes a high mobility group protein that interacts with DNA and chromatin to regulate gene expression. It plays a role in embryonic development and cell differentiation. Alterations in HMGA2 are associated with various cancers, including benign tumors such as lipomas and aggressive malignancies like certain types of sarcomas.
JAZF1 (JAZF Zinc Finger 1): JAZF1 is associated with endometrial cancer and reproductive health. It plays a role in the regulation of gene expression and cellular processes in the endometrium.
KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11): KCNJ11 encodes a protein that forms part of the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. KATP channels play a role in insulin secretion and glucose homeostasis. Variations in KCNJ11 are associated with an increased risk of type 2 diabetes.
MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments.
SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is involved in zinc transport and insulin secretion from pancreatic beta cells. It plays a role in glucose homeostasis and is a potential target for the treatment of type 2 diabetes.
SLC38A11 (Solute Carrier Family 38 Member 11): SLC38A11 is involved in amino acid transport and nutrient sensing. It plays a role in the regulation of mTORC1 signaling, which is important for cell growth and metabolism.
TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member): TAP2 is a gene involved in antigen presentation and the immune response. It plays a role in transporting peptides into the endoplasmic reticulum for loading onto major histocompatibility complex (MHC) molecules. TAP2 is important for adaptive immunity.
TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which is important for cell growth and development. Variants in this gene have been strongly associated with the risk of type 2 diabetes, possibly through effects on insulin secretion and glucose metabolism. Its study is crucial for understanding the genetic basis of diabetes and developing potential treatments.
TSPAN3 (Tetraspanin 3): TSPAN3 encodes a member of the tetraspanin protein family, which plays a role in cell adhesion, signaling, and membrane organization. Tetraspanins are involved in various cellular processes, including immune cell activation and cancer metastasis.
Overactive Thyroid
BACH2CD40CTLA4FAM227BFCRL3LRRC6MAFPDE10APDE8BSH2B3SOX9SYT13TSHRTRMO
BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 encodes a transcription factor involved in regulating immune responses. It plays a crucial role in maintaining immune homeostasis by controlling the differentiation and function of various immune cells, including B cells and T cells. Dysregulation of BACH2 has been associated with autoimmune diseases and susceptibility to infections.
CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in immune responses. It is primarily found on B cells and antigen-presenting cells. CD40 activation is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can result in immunodeficiency disorders.
CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4): CTLA4 encodes a protein that is crucial for regulating immune responses by inhibiting the activation of T cells. CTLA4 competes with the co-stimulatory receptor CD28 for binding to CD80/CD86 on antigen-presenting cells. Its role is to prevent excessive T cell activation and maintain immune tolerance. Dysregulation of CTLA4 is associated with autoimmune diseases.
FAM227B (Family with Sequence Similarity 227 Member B): FAM227B is a gene with currently limited functional information. Further research is needed to elucidate its specific role and significance in cellular processes and human health.
FCRL3 (Fc Receptor-Like 3): FCRL3 is a member of the Fc receptor-like (FCRL) gene family and is primarily expressed in B cells. It is involved in modulating B cell receptor signaling and antibody production. FCRL3 may play a role in regulating immune responses and autoimmune diseases.
LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 encodes a protein that is part of the ciliary structure in cells. Cilia are important for cellular motility and signaling. Mutations in LRRC6 can lead to ciliopathies, a group of genetic disorders characterized by ciliary dysfunction and various clinical manifestations.
MAF (MAF BZIP Transcription Factor): MAF encodes a transcription factor that is involved in the development and differentiation of various tissues, including the lens of the eye and pancreatic beta cells. It plays a role in regulating gene expression and cell fate determination. Mutations in MAF can lead to developmental abnormalities and diseases.
PDE10A (Phosphodiesterase 10A): PDE10A encodes an enzyme called phosphodiesterase 10A, which regulates intracellular signaling by hydrolyzing cyclic nucleotides, particularly cAMP and cGMP. PDE10A is primarily expressed in the brain and is involved in neuronal signaling. It has been implicated in neurological and psychiatric disorders.
PDE8B (Phosphodiesterase 8B): PDE8B is another gene that encodes a phosphodiesterase enzyme, specifically phosphodiesterase 8B. Like PDE10A, it regulates cyclic nucleotide signaling, but its functions may vary across different tissues and cell types. PDE8B may have implications in various physiological processes.
SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation.
SOX9 (SRY-Box Transcription Factor 9): SOX9 is a transcription factor that plays a crucial role in development, particularly in the formation of various tissues, including cartilage, bone, and the male gonads. Mutations in SOX9 can lead to skeletal and reproductive developmental abnormalities.
SYT13 (Synaptotagmin 13): SYT13 is a member of the synaptotagmin gene family, which is involved in synaptic vesicle trafficking and neurotransmitter release in neurons. It contributes to the regulation of synaptic transmission and neuronal communication.
TSHR (Thyroid-Stimulating Hormone Receptor): TSHR encodes the thyroid-stimulating hormone receptor, which is found on the surface of thyroid cells. It plays a central role in regulating thyroid hormone production and release in response to pituitary signals. Dysregulation of TSHR can lead to thyroid disorders.
TRMO (tRNA Methyltransferase 10 Homolog A): TRMO is a gene involved in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. tRNA modifications are essential for accurate protein synthesis during translation.
Underactive Thyroid
BACH2CBLBCD44CTLA4FCRL3FAPMICBSH2B3TPOTRMOTYK2TSHRVAV3
BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 encodes a transcription factor involved in regulating immune responses. It plays a crucial role in maintaining immune homeostasis by controlling the differentiation and function of various immune cells, including B cells and T cells. Dysregulation of BACH2 has been associated with autoimmune diseases and susceptibility to infections.
CBLB (C-Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase): CBLB encodes an E3 ubiquitin ligase protein that regulates intracellular signaling pathways by targeting proteins for degradation. It plays a role in immune responses and is involved in negatively regulating T cell activation. Dysregulation of CBLB can lead to autoimmune diseases and immune-related disorders.
CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein involved in cell adhesion and migration. It plays a role in various cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. CD44 is a key receptor for hyaluronic acid and has implications in inflammation and tissue repair.
CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4): CTLA4 encodes a protein that is crucial for regulating immune responses by inhibiting the activation of T cells. CTLA4 competes with the co-stimulatory receptor CD28 for binding to CD80/CD86 on antigen-presenting cells. Its role is to prevent excessive T cell activation and maintain immune tolerance. Dysregulation of CTLA4 is associated with autoimmune diseases.
FCRL3 (Fc Receptor-Like 3): FCRL3 is a member of the Fc receptor-like (FCRL) gene family and is primarily expressed in B cells. It is involved in modulating B cell receptor signaling and antibody production. FCRL3 may play a role in regulating immune responses and autoimmune diseases.
FAP (Fibroblast Activation Protein Alpha): FAP encodes an enzyme known as fibroblast activation protein alpha, which is expressed by activated fibroblasts in the tumor microenvironment. It plays a role in tissue remodeling and is a potential therapeutic target in cancer treatment.
MICB (MHC Class I Polypeptide-Related Sequence B): MICB is a stress-induced ligand for the NKG2D receptor, which is expressed on the surface of natural killer (NK) cells, CD8+ T-cells, and certain γδ T-cells. The interaction between MICB and NKG2D plays a crucial role in the immune surveillance against malignant and infected cells. Upregulation of MICB on stressed, transformed, or infected cells can trigger an immune response leading to cell lysis. Therefore, MICB is important for immune defense against cancer and viral infections.
SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation.
TPO (Thyroid Peroxidase): TPO encodes the thyroid peroxidase enzyme, which is crucial for thyroid hormone synthesis. It catalyzes the iodination and coupling of thyroid hormone precursors, ultimately leading to the production of thyroid hormones (T3 and T4). Dysregulation of TPO can result in thyroid disorders.
TRMO (tRNA Methyltransferase 10 Homolog A): TRMO is a gene involved in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. tRNA modifications are essential for accurate protein synthesis during translation.
TYK2 (Tyrosine Kinase 2): TYK2 encodes a tyrosine kinase enzyme that plays a role in signaling pathways mediated by various cytokines, including interferons and interleukins. TYK2 is involved in immune responses and inflammation regulation.
TSHR (Thyroid-Stimulating Hormone Receptor): TSHR encodes the thyroid-stimulating hormone receptor, which is found on the surface of thyroid cells. It plays a central role in regulating thyroid hormone production and release in response to pituitary signals. Dysregulation of TSHR can lead to thyroid disorders.
VAV3 (Vav Guanine Nucleotide Exchange Factor 3): VAV3 encodes a guanine nucleotide exchange factor that is involved in intracellular signaling pathways related to cell proliferation and cytoskeletal rearrangement. It plays a role in immune cell activation and may have implications in immune responses and cancer.
Uric Acid
AAK1ABCA6ACVR1ADAM15CCND2HMGCS2HPRT1INHBCMLXIPLPIP5KL1SH3YL1SLC16A9SLC17A1SLC39A8SOS2TBX2UNCXVEGFAZKSCAN5
AAK1 (AP2-Associated Kinase 1): AAK1 encodes a protein kinase involved in clathrin-mediated endocytosis, a process by which cells internalize molecules from their external environment. AAK1 plays a role in regulating the trafficking and internalization of cell surface receptors and is essential for various cellular functions.
ABCA6 (ATP-Binding Cassette Subfamily A Member 6): ABCA6 is a member of the ATP-binding cassette transporter family and is involved in cellular lipid transport. It plays a role in transporting lipids across cellular membranes and may be associated with lipid metabolism and homeostasis.
ACVR1 (Activin Receptor Type 1): ACVR1 encodes a receptor for activin, a growth and differentiation factor. It is involved in signaling pathways that regulate cell proliferation and differentiation. Mutations in ACVR1 have been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the abnormal formation of bone in soft tissues.
ADAM15 (A Disintegrin and Metalloproteinase 15): ADAM15 is a member of the ADAM protein family, which are involved in cell adhesion, migration, and proteolysis of extracellular matrix proteins. ADAM15 may play a role in cell signaling and tissue remodeling.
CCND2 (Cyclin D2): CCND2 is a member of the cyclin family and is involved in cell cycle regulation. It forms complexes with cyclin-dependent kinases (CDKs) and regulates the progression of the cell cycle from G1 to S phase. Dysregulation of CCND2 can contribute to uncontrolled cell growth and is associated with various cancers.
HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which are alternative energy sources produced during periods of fasting or low carbohydrate intake. It plays a role in energy metabolism and is primarily expressed in the liver.
HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is an essential gene involved in purine metabolism. It catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP), a precursor for purine nucleotide synthesis. Mutations in HPRT1 can lead to Lesch-Nyhan syndrome, a rare genetic disorder characterized by neurological and behavioral abnormalities.
INHBC (Inhibin Beta C Subunit): INHBC is a part of the activin-inhibin family, which regulates various functions including reproduction, cell growth, and differentiation. It is involved in the regulation of the follicle-stimulating hormone (FSH). Dysregulation of INHBC can have implications in reproductive health and certain cancers.
MLXIPL (MLX-Interacting Protein-Like): MLXIPL encodes a protein involved in glucose metabolism and regulation of gene expression. It plays a role in glucose homeostasis and lipid metabolism, and mutations in MLXIPL have been associated with disorders related to carbohydrate metabolism.
PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 encodes an enzyme involved in phosphoinositide metabolism. It catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a key signaling molecule in various cellular processes, including membrane trafficking and cytoskeletal organization.
SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics.
SLC16A9 (Solute Carrier Family 16 Member 9): SLC16A9 is a member of the solute carrier family and is involved in transporting small molecules across cell membranes. Its specific substrate and functions are still being elucidated.
SLC17A1 (Solute Carrier Family 17 Member 1): SLC17A1 encodes a vesicular glutamate transporter, which is responsible for packaging and releasing glutamate, a neurotransmitter, into synaptic vesicles. It plays a crucial role in neuronal communication and synaptic transmission.
SLC39A8 (Solute Carrier Family 39 Member 8): SLC39A8 is a transporter protein involved in the cellular uptake of divalent cations, particularly zinc and manganese. It plays a crucial role in metal ion homeostasis and is important for various biological processes, including immune function and neural development. Mutations in SLC39A8 have been associated with multiple health issues, including congenital disorders of glycosylation.
SOS2 (Son of Sevenless Homolog 2): SOS2 is involved in cell signaling and the activation of the Ras/MAPK pathway. It serves as a crucial mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to various physiological processes and cellular outcomes.
TBX2 (T-Box Transcription Factor 2): TBX2 encodes a transcription factor that belongs to the T-box family. It plays a role in embryonic development and tissue differentiation, particularly in the development of the heart and limb formation.
UNCX (Unc-4 Homeobox): UNCX encodes a homeobox-containing transcription factor involved in neuronal development and axon guidance. It plays a role in specifying neuronal identity and connectivity in the developing nervous system.
VEGFA (Vascular Endothelial Growth Factor A): Much like MMP15's involvement in tissue remodeling and angiogenesis, VEGFA holds a central role in regulating blood vessel formation and vascular function. As a key member of the vascular endothelial growth factor (VEGF) family, VEGFA stimulates the proliferation and migration of endothelial cells, promoting the formation of new blood vessels (angiogenesis) crucial for various physiological processes including wound healing, embryonic development, and tissue repair. The precise regulation of VEGFA expression and activity is essential for maintaining vascular integrity and homeostasis. Dysregulation of VEGFA signaling has been implicated in numerous pathological conditions, including cancer progression, diabetic retinopathy, and cardiovascular diseases. Understanding the intricate mechanisms governing VEGFA-mediated angiogenesis offers potential avenues for therapeutic intervention, particularly in diseases characterized by abnormal blood vessel formation and function.
ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein with KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1 and Number 18 cDNA) domains, which are involved in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation.
Gout
ABCG2ADH1BCARMIL1GCKRINHBCMLXIPLMTX1NUDT9OVOL1PNPLA3PRKAG2PRSS16RREB1SLC2A9SPP1TMEM171
ABCG2 (ATP-Binding Cassette Subfamily G Member 2): ABCG2 encodes a protein involved in cellular transport processes. It is a member of the ATP-binding cassette (ABC) transporter family and is responsible for the efflux of various molecules, including drugs and toxins, out of cells. ABCG2 plays a role in drug resistance and the protection of tissues from harmful substances.
ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases.
CARMIL1 (Capping Protein Regulator and Myosin 1 Linker 1): CARMIL1 is involved in regulating actin dynamics, an essential component of the cellular cytoskeleton. It plays a crucial role in cell movement, structure, and signaling. Mutations or disruptions in CARMIL1 can affect cell motility and have been linked to immune system dysfunctions and certain forms of cancer.
GCKR (Glucokinase Regulator): GCKR is a gene encoding a protein that regulates glucokinase, an enzyme involved in glucose metabolism. Variations in GCKR can influence glucose homeostasis and have been associated with diabetes and other metabolic conditions.
INHBC (Inhibin Beta C Subunit): INHBC is a part of the activin-inhibin family, which regulates various functions including reproduction, cell growth, and differentiation. It is involved in the regulation of the follicle-stimulating hormone (FSH). Dysregulation of INHBC can have implications in reproductive health and certain cancers.
MLXIPL (MLX-Interacting Protein-Like): MLXIPL encodes a protein involved in glucose metabolism and regulation of gene expression. It plays a role in glucose homeostasis and lipid metabolism, and mutations in MLXIPL have been associated with disorders related to carbohydrate metabolism.
MTX1 (Metaxin 1): MTX1 encodes a protein involved in mitochondrial transport and organization. It plays a role in the proper functioning and positioning of mitochondria within cells, which is crucial for energy production and cellular processes.
NUDT9 (Nudix Hydrolase 9): NUDT9 encodes a member of the Nudix hydrolase family, which is involved in the hydrolysis of nucleoside diphosphate derivatives. Its specific substrates and functions are still being elucidated.
OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 encodes a transcriptional repressor that is involved in the regulation of gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and barrier formation.
PNPLA3 (Patatin-Like Phospholipase Domain Containing 3): PNPLA3 encodes an enzyme called adiponutrin or patatin-like phospholipase domain-containing protein 3 (PNPLA3). It is involved in lipid metabolism and the hydrolysis of triglycerides in adipocytes. Genetic variations in PNPLA3 are associated with liver diseases, including non-alcoholic fatty liver disease (NAFLD).
PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in the sensing of cellular energy status and the activation of pathways to restore energy balance.
PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that is involved in protein digestion and the breakdown of dietary proteins in the digestive system. Serine proteases like PRSS16 are essential for the digestion of proteins in the stomach and small intestine. They play a critical role in breaking down proteins into smaller peptides and amino acids, which can then be absorbed and utilized by the body.
RREB1 (Ras Responsive Element Binding Protein 1): RREB1 encodes a transcription factor that binds to the Ras-responsive element (RRE) and is involved in the regulation of gene expression in response to Ras signaling. It plays a role in cell growth and proliferation.
SLC2A9 (Solute Carrier Family 2 Member 9): SLC2A9 encodes a transporter protein involved in urate transport in the kidneys. It plays a crucial role in regulating uric acid levels in the blood and is associated with gout susceptibility.
SPP1 (Secreted Phosphoprotein 1): SPP1 encodes osteopontin, a protein involved in bone remodeling, immune responses, and tissue repair. It plays a role in inflammatory processes and is associated with various diseases, including autoimmune disorders and cancer.
TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its precise functions and roles in cellular processes are not fully characterized, transmembrane proteins are often involved in cell signaling, transport of molecules across cell membranes, and cellular communication. Further research is needed to uncover the specific functions of TMEM171 in cellular biology.
Heavy Sweating
CADM1DLG2FZD8ITGA1KRT72LONP2LRRC7PPP1CBSETD7SLC6A16TLN2TUSC1UBLCP1
CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a crucial role in cell adhesion, a process integral to cellular communication and development. It is known for its involvement in the nervous system and immune responses. Mutations in CADM1 have been associated with various types of cancers and neurological disorders, highlighting its significance in both normal physiology and disease states.
DLG2 (Discs Large Homolog 2): The DLG2 gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family, proteins involved in synaptic assembly and function. It is particularly significant in the nervous system, where it contributes to synaptic plasticity and neuronal signaling. Disruptions in DLG2 have been linked to neurological disorders, emphasizing its role in brain function and development.
FZD8 (Frizzled Class Receptor 8): FZD8 encodes a receptor for Wnt signaling proteins, playing a pivotal role in embryonic development and cell signaling pathways. This gene is essential in various processes including cell differentiation, proliferation, and polarity. Abnormalities in FZD8 signaling are associated with developmental defects and various cancers.
ITGA1 (Integrin Subunit Alpha 1): The ITGA1 gene encodes a protein that is part of the integrin alpha chain family. These proteins are important for cell adhesion and signal transduction, especially in the context of interactions between cells and the extracellular matrix. Mutations in ITGA1 have implications in various pathological conditions, including fibrosis and cancer metastasis.
KRT72 (Keratin 72): KRT72 is a gene encoding a type II keratin, which is a part of the cytoskeletal structure in epithelial cells. It plays a significant role in the structural integrity and function of hair follicles. Mutations in this gene are often associated with hair disorders, reflecting its importance in hair formation and maintenance.
LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 encodes a mitochondrial protease that is crucial for mitochondrial function and maintenance. It helps in the degradation of damaged or misfolded mitochondrial proteins, thus playing a key role in mitochondrial quality control. Impairments in LONP2 function can lead to mitochondrial disorders and contribute to aging-related diseases.
LRRC7 (Leucine Rich Repeat Containing 7): This gene encodes a protein that is thought to be involved in synaptic functions in the brain. Its role is particularly noted in dendritic spines, structures vital for synaptic transmission and plasticity. Alterations in LRRC7 have been linked to neurological conditions, highlighting its importance in brain development and function.
PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB encodes a catalytic subunit of protein phosphatase 1, a key enzyme in the regulation of cellular processes through dephosphorylation. This enzyme plays a vital role in various cellular functions, including muscle contraction, glycogen metabolism, and cell division. Abnormalities in PPP1CB activity are implicated in several diseases, including cardiac disorders and cancer.
SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is involved in epigenetic regulation as it encodes an enzyme responsible for methylation of histone proteins. This methylation is crucial for regulating gene expression. Dysregulation of SETD7 activity is associated with various pathological conditions, including cancer and cardiovascular diseases.
SLC6A16 (Solute Carrier Family 6 Member 16): This gene encodes a transporter protein that is part of the solute carrier family. It is particularly important in the transport of amino acids and neurotransmitters in the nervous system. The function of SLC6A16 is critical in maintaining the balance of neurotransmitters, and its dysregulation can be implicated in neurological disorders.
TLN2 (Talin 2): TLN2 encodes the talin 2 protein, which is involved in integrin-mediated signaling pathways and plays a key role in cell adhesion, migration, and signaling. Its importance is underscored in the formation and stabilization of integrin-mediated cell adhesions, with implications in various cellular processes, including immune responses and cancer metastasis.
TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is considered a tumor suppressor gene and is involved in the regulation of cell growth and apoptosis. It has been studied in relation to various cancers, with its reduced expression often observed in malignant tissues, suggesting its protective role against cancer development.
UBLCP1 (Ubiquitin Like Domain Containing CTD Phosphatase 1): UBLCP1 encodes a protein phosphatase that is involved in the regulation of RNA polymerase II, a key enzyme in the transcription process. Its role in the dephosphorylation of the C-terminal domain of RNA polymerase II highlights its significance in the regulation of gene expression, with implications in various cellular processes and diseases.
High Parathyroid hormone
ANKRD30ACAMK1DCCDC179CLEC12ACPXM2FIBINHMX3LDLRAD3LRFN5MRPS31PIK3AP1RASSF3Ric3SFTPA1Tex26TRHDETTC6UBL3
ANKRD30A (Ankyrin Repeat Domain 30A): ANKRD30A encodes a protein with ankyrin repeat domains, which are known for their role in protein-protein interactions. It's particularly noted for its expression in breast tissue and has been implicated in breast cancer biology, possibly serving as a biomarker or therapeutic target in breast cancer research and treatment.
CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is part of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium fluctuations. It plays a role in various cellular processes, including regulation of gene expression, cell cycle, and metabolism. CAMK1D has been implicated in diabetes and cardiovascular diseases, underlining its importance in metabolic regulation and cellular signaling.
CCDC179 (Coiled-Coil Domain Containing 179): CCDC179 is a gene that encodes a protein with a coiled-coil domain, typically involved in structural organization and protein interactions. While its specific functions are not well-characterized, such genes are often implicated in a variety of cellular processes, including vesicle transport, chromosome segregation, and cell division.
CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that is a member of the C-type lectin-like receptor family, playing a role in the immune system. It is involved in cell signaling pathways that regulate immune responses, particularly in myeloid cells, and has been a focus in studies related to inflammation and leukemia.
CPXM2 (Carboxypeptidase X, M14 Family Member 2): CPXM2 encodes an enzyme that functions in the modification of proteins by removing terminal amino acids. This process is crucial in various biological processes, including protein maturation and degradation. The enzyme's role in developmental processes and neural activity has also been noted.
FIBIN (Fibin): FIBIN is a gene that encodes a protein involved in embryonic development, particularly in the development of the heart and blood vessels. It plays a role in signaling pathways that regulate cell differentiation and tissue morphogenesis. Mutations in FIBIN are implicated in developmental disorders.
HMX3 (H6 Family Homeobox 3): HMX3 is a homeobox gene that encodes a transcription factor playing a critical role in early embryonic development, especially in the formation of the nervous system. It is crucial for the development of certain brain regions and sensory organs, such as the inner ear.
LDLRAD3 (Low Density Lipoprotein Receptor Class A Domain Containing 3): This gene encodes a protein that is believed to be involved in lipid metabolism and transport. It shares similarities with low-density lipoprotein receptors, suggesting a role in cholesterol homeostasis. Its exact function, however, remains less understood.
LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins, involved in neuronal development and synaptic function. It may play a role in the formation and maintenance of neural circuits, and dysfunctions in LRFN5 are potential contributors to neurodevelopmental disorders.
MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is part of the mitochondrial ribosome, involved in mitochondrial protein synthesis. It plays a crucial role in the production of proteins required for mitochondrial function and energy production. Defects in MRPS31 can lead to mitochondrial disorders affecting various body systems.
PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 plays a role in the PI3K signaling pathway, which is critical for many cellular processes including cell growth, proliferation, and survival. Its involvement in immune cell signaling makes it relevant in studies of immunity and inflammation, as well as in cancer biology.
RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a member of the RASSF family of tumor suppressor proteins that play pivotal roles in cell cycle regulation, apoptosis, and cellular senescence. It functions as a key mediator of various signaling pathways, notably those involving the Ras proteins, which are critical for cell proliferation, differentiation, and survival. RASSF3's ability to interact with microtubules and other cellular structures further contributes to its involvement in the maintenance of genomic stability and the regulation of mitotic processes. The protein is implicated in the suppression of tumor growth and progression by inhibiting abnormal cell proliferation and inducing apoptosis in response to oncogenic signals. Loss of RASSF3 expression or its inactivation through genetic mutations can lead to uncontrolled cell growth and is associated with the development and progression of various cancers. Consequently, RASSF3 is considered a potential biomarker for cancer diagnosis and prognosis, as well as a target for therapeutic intervention in oncology.
Ric3 (Resistance To Inhibitors Of Cholinesterase 3 Homolog): Ric3 is known for its role in the maturation and trafficking of nicotinic acetylcholine receptors, which are key components in neuronal signaling. Its function is important in the development and maintenance of the nervous system, and alterations in Ric3 can have implications for neurological diseases.
SFTPA1 (Surfactant Protein A1): SFTPA1 encodes a protein crucial in lung function, particularly in the innate immune response of the respiratory tract. It helps in reducing surface tension in the lungs and plays a role in defending against respiratory pathogens. Mutations in SFTPA1 are associated with respiratory diseases.
Tex26 (Testis Expressed 26): Tex26 is primarily expressed in the testis and is believed to play a role in testicular function and development. The specific functions of this gene are not thoroughly understood, but it is considered significant in reproductive biology and potentially in fertility-related studies.
TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE encodes an enzyme responsible for the degradation of thyrotropin-releasing hormone, which is important in regulating the thyroid axis. It plays a role in maintaining hormonal balance and has implications in metabolic processes and mood regulation.
TTC6 (Tetratricopeptide Repeat Domain 6): TTC6 encodes a protein with tetratricopeptide repeat domains, known for mediating protein-protein interactions. It's involved in various cellular processes, such as protein trafficking and signaling pathways. The exact functions of TTC6 in human physiology are still being explored.
UBL3 (Ubiquitin-Like 3): UBL3 encodes a protein that is similar to ubiquitin, a key player in the protein degradation pathway. It is involved in protein modification and has been implicated in cellular processes like signal transduction and membrane trafficking. Dysregulation of UBL3 may have implications in various cellular dysfunctions.
Who is the DNA Metabolic Health Test Suitable For?
The GetTested DNA Metabolic Health Test is ideal for anyone interested in improving their metabolic health and understanding how their genetics affect various aspects of their metabolism. It is especially valuable for individuals aiming to prevent metabolic diseases, improve blood sugar levels, optimise weight, and understand their body fat and obesity. The Metabolic Health Test also examines genes involved in thyroid function. By gaining insights into your genetic predisposition, you can make informed decisions about your health.
How Does It Work?
- Order the Test: Order your GetTested DNA Metabolic Health Test online and have it delivered to your home.
- Collect the Sample: Use the provided test kit to easily collect a saliva sample at home.
- Return the Sample: Place the sample in the prepaid return envelope and send it back to the GetTested laboratory.
- The Results: Within 6-8 weeks of receiving your sample, we analyse your genes and generate a comprehensive response report.
Test Report and Recommendations
Once your results are ready, you will receive a comprehensive response report from GetTested explaining your genetic insights and what they mean for your metabolic health. In addition, the report includes personalised recommendations and strategies to optimise your health based on your genetic results.
About the Sample Material
The DNA and original sample material are destroyed after analysis, and there is no personal connection to the sample except for your unique test ID to which your test results are linked. The information is completely anonymised, and the lab has no knowledge of whom it belongs to. We do not give or sell the results to any third party. You also have the option to remove your test results after receiving them.
FAQ
How is the DNA Metabolic Health test carried out?
Our DNA Metabolic Health test is a home test kit. After ordering, we will send you a kit with everything you need to collect the saliva sample. Then, simply return your sample to us in the pre-paid envelope.
How quickly will I receive my results?
Once we receive your sample, you can expect to get your results within 6-8 weeks.
When should I take the test?
The test can be collected at any time of the day.
Example Report
Example of DNA Metabolic Health Test
Reviews
1 reviews
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Can you work with Irish customers?Hi Mo! I would suggest contacting us directly at hello@gettested.co.uk, where the right person will be able to assist you with your inquiry.
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