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The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.

<p>The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.</p>

DNA Metabolic Health Test

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. ...



SORCS1

C1D (Nuclear Nucleic Acid-Binding Protein C1D): C1D is a nuclear protein that is involved in nucleic acid binding and ribonucleoprotein complex assembly. It plays a role in RNA processing and transcription regulation. C1D has been studied in the context of DNA repair and may have implications in cancer biology....



APOA1 (Apolipoprotein A-I): APOA1 is the major protein component of HDL in plasma and plays a central role in cholesterol transport and metabolism. It facilitates the removal of cholesterol from tissues to the liver for excretion. Variations in APOA1 are associated with changes in HDL levels and risks of cardiovascular disease....

APOA1

FCHSD2 (FCH And Double SH3 Domains 2): FCHSD2 is involved in cellular processes like endocytosis and cytoskeletal organization. It's notable for its role in vesicle transport and has been linked to certain cancers. Its function in cell signaling and membrane dynamics makes it relevant in understanding cellular communication and disease mechanisms....

FCHSD2

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is part of the zinc finger protein family, known for roles in DNA binding and gene regulation. Its precise function is not well-defined, but like other zinc finger proteins, it may be involved in transcriptional regulation, RNA processing, or DNA repair processes, impacting various cellular functions and potentially playing a role in disease mechanisms....




ZCCHC7

CITED2 (Cbp/p300-Interacting Transactivator With Glu/Asp-Rich Carboxy-Terminal Domain 2): CITED2 is a transcriptional modulator that interacts with various transcription factors and regulates gene expression. It's involved in embryonic development, including heart and neural development, and is implicated in response to hypoxia. Dysregulation of CITED2 can contribute to congenital abnormalities and other developmental disorders....



CITED2

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....



CSMD1

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is involved in the assembly of iron-sulfur clusters, which are critical for mitochondrial function and cellular energy production. Mutations in ISCA2 can lead to mitochondrial disorders, affecting energy metabolism in cells and causing a range of clinical symptoms....

ISCA2

EFNA5 (Ephrin A5): EFNA5 belongs to the ephrin family and acts as a ligand for Eph receptors, which are involved in various developmental processes, including axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can contribute to aberrant development and has been studied in the context of cancer progression....

EFNA5

IGF1R (Insulin-like Growth Factor 1 Receptor): IGF1R encodes a receptor critical for responding to insulin-like growth factors (IGFs). Its central role in growth and development is well-established. IGF1R influences various cellular processes, including growth, survival, and metabolism regulation. Dysregulation of this receptor has been implicated in several diseases, making it a subject of interest in both developmental biology and clinical medicine....

IGF1R

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF is a key player in the MAPK/ERK signaling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in BRAF are implicated in various cancers, including melanoma, thyroid cancer, and colorectal cancer. BRAF mutations are also involved in certain non-cancerous conditions, such as cardiofaciocutaneous syndrome, which affects the heart, facial features, and skin....



BRAF

DAB1 (Disabled Homolog 1): DAB1 is crucial for brain development, particularly in the regulation of neuronal positioning and migration. It's a key player in the Reelin signaling pathway, which is important for the organization of brain structure during development. Mutations in DAB1 can result in neurological disorders due to its critical role in establishing proper neural networks....

DAB1

SH2B1 (SH2B Adaptor Protein 1): SH2B1 is a key adaptor protein that supports various intracellular signaling pathways, especially those related to insulin and leptin. It's important for energy balance, body weight regulation, and glucose metabolism. Genetic variants of SH2B1 are associated with obesity and insulin resistance....



SH2B1

STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases....



STAT3

BIN1 (Bridging Integrator 1): BIN1 is a protein that is essential for cellular membrane dynamics. It is involved in processes such as endocytosis and membrane curvature. BIN1 acts as a bridging factor and plays a critical role in facilitating membrane invaginations called tubules, which are essential for various cellular functions....



BIN1

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a transmembrane protein that is primarily expressed in lymphocytes. It plays a role in immune cell signaling and activation. LAX1 is involved in the regulation of lymphocyte development and function....



LAX1

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....



SFTPA1

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....

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A encodes a protein involved in cytoskeletal organization and membrane stability. It plays a role in maintaining the structural integrity of cells, including red blood cells. Mutations in this gene can lead to disorders affecting red blood cell morphology....

EPB41L4A

FMO4 (Flavin Containing Monooxygenase 4): FMO4 is part of the flavin-containing monooxygenase family, enzymes that play a crucial role in the detoxification of xenobiotics, drugs, and endogenous compounds by catalyzing the oxidation of soft nucleophiles. FMO4 is expressed primarily in the liver and has a substrate specificity that can influence the metabolism and elimination of various substances, potentially affecting drug responses and toxicity. Research into FMO4 focuses on its role in metabolic pathways and its implications for pharmacology and toxicology....

FMO4

APOC4 (Apolipoprotein C-IV): APOC4 is a member of the apolipoprotein family, playing a role in lipid metabolism and transport. This protein is involved in the regulation of triglyceride-rich lipoprotein particles and may influence the interaction between lipoproteins and their receptors or lipid transfer proteins. APOC4 is present in various lipoprotein fractions in plasma, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL). Its function in lipid metabolism suggests a potential involvement in the development of cardiovascular diseases and lipid disorders. Dysregulation or genetic variations of APOC4 can impact lipid levels and distribution, contributing to atherosclerosis, coronary artery disease, and other...

APOC4

RNF220 (Ring Finger Protein 220): RNF220 is a member of the ring finger protein family, characterized by its ring finger domain, which is implicated in mediating protein-protein interactions and ubiquitination processes. This enzyme plays a significant role in the ubiquitin-proteasome system, a critical pathway for protein degradation and turnover, which is essential for maintaining cellular homeostasis. Through its E3 ubiquitin ligase activity, RNF220 is involved in targeting specific substrates for degradation, thus regulating various cellular processes including signal transduction, transcriptional control, and the cell cycle. The dysregulation of RNF220 activity can contribute to pathological conditions, such as cancer, neurodegenerative diseases,...

RNF220

GC (Group-Specific Component, also known as Vitamin D Binding Protein): GC is a protein that binds and transports vitamin D and its metabolites in the blood. It plays a crucial role in the regulation of calcium and phosphate homeostasis and in modulating immune and inflammatory responses. Variations in GC can affect vitamin D levels and metabolism, influencing bone health and potentially impacting the risk of autoimmune diseases....

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....

GIPR

BCL11A (B-Cell CLL/Lymphoma 11A): BCL11A is a transcription factor critical in the development and functioning of blood cells. It plays a significant role in the regulation of fetal hemoglobin levels and has been a focus in studies related to sickle cell disease and beta-thalassemia. BCL11A is also implicated in various hematological cancers....



BCL11A

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is another member of the cytochrome P450 family, involved in the oxidation of fatty acids and drugs. Its role in lipid metabolism and drug detoxification is important for understanding individual differences in drug responses and susceptibility to certain diseases related to lipid metabolism....

CYP4F11

BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a crucial role in neural development. It is involved in the differentiation and specification of specific neuronal cell types during embryonic development, contributing to the formation of a functional nervous system....



BARHL2

ARL14EP (ADP-ribosylation factor-like protein 14E): ARL14EP, a member of the ADP-ribosylation factor-like (ARL) protein family, serves as a crucial regulator in various cellular processes, primarily by modulating intracellular vesicular trafficking and membrane dynamics. This protein plays a pivotal role in directing the movement of vesicles within cells, thus influencing processes such as protein secretion, endocytosis, and organelle organization. Additionally, ARL14EP is implicated in cell signaling pathways and cytoskeletal regulation, further underscoring its significance in cellular function. Dysregulation of ARL14EP expression or activity has been associated with several pathological conditions, including neurodegenerative disorders, cancer progression, and metabolic diseases. Understanding the precise...

ARL14EP

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....

ALOX5AP

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....

BACH2

ESR2 (Estrogen Receptor 2): ESR2 encodes one of the two main types of estrogen receptors. It mediates the effects of estrogen, a crucial hormone in reproductive and non-reproductive systems, including bone, cardiovascular, and neural health. ESR2 is involved in various physiological processes and is a target in hormone replacement therapy and some cancer treatments....

ESR2

CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is part of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) involved in the formation of multivesicular bodies. It plays a critical role in the sorting of ubiquitinated membrane proteins for degradation in lysosomes....



CHMP3

ANGPTL4 (Angiopoietin-Like 4): ANGPTL4, a member of the angiopoietin-like protein family, is a multifunctional protein involved in regulating lipid metabolism, angiogenesis, and inflammation. It exerts its effects through various mechanisms, including inhibition of lipoprotein lipase (LPL) activity, which leads to increased plasma triglyceride levels. Additionally, ANGPTL4 modulates angiogenesis by inhibiting endothelial cell migration and tube formation, thereby influencing vascular development and remodeling. Moreover, ANGPTL4 has been implicated in inflammation regulation through its interactions with inflammatory mediators and its role in tissue repair processes. Dysregulation of ANGPTL4 has been associated with metabolic disorders such as obesity, dyslipidemia, and insulin resistance, as...

ANGPTL4

B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is involved in the biosynthesis of complex carbohydrates, specifically in the formation of glycosaminoglycans, which are components of the extracellular matrix. While the detailed biological functions of B3GNTL1 are still being elucidated, enzymes involved in carbohydrate modification are crucial for cell-cell communication, signaling, and structural integrity. Aberrations in glycosaminoglycan synthesis can have implications for developmental processes and diseases such as cancer and congenital disorders....

B3GNTL1

SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 catalyzes the conversion of serine and tetrahydrofolate to glycine and methylenetetrahydrofolate, crucial for nucleotide synthesis and methylation reactions. Its function is vital for DNA replication and repair, impacting cell proliferation and genetic stability. SHMT1's role in folate metabolism links it to cancer risk and neurological disorders....



SHMT1

ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1 is a member of the ETS family of transcription factors, involved in the regulation of various genes, particularly those involved in immune response, cell growth, and development. It plays a role in angiogenesis, lymphocyte development, and tumorigenesis, and has been implicated in various cancers and autoimmune diseases....

ETS1

FUCA1 (Alpha-L-Fucosidase 1): FUCA1 codes for an enzyme responsible for the breakdown of fucose, a component of complex sugars. Deficiencies in this enzyme can lead to fucosidosis, a rare lysosomal storage disorder. The study of FUCA1 is important for understanding various metabolic pathways and potential metabolic disorders....

FUCA1

GBP3 (Guanylate Binding Protein 3): GBP3 is part of the guanylate-binding protein family, playing a role in immune response, particularly in response to intracellular pathogens. It's involved in the defense against viral and bacterial infections and has been studied for its role in the modulation of inflammatory responses....

GBP3

BBX (Bobby Sox Homolog): BBX is a transcriptional regulator involved in cell proliferation and differentiation. It plays a crucial role in embryonic development and has been implicated in regulating circadian rhythms. Disruptions in BBX function can lead to developmental abnormalities and impact circadian behavior....



CHDH (Choline Dehydrogenase) plays a vital role in choline metabolism, converting choline into betaine. This process is essential for the synthesis of acetylcholine, a critical neurotransmitter, and for the methylation of homocysteine, reducing the risk of cardiovascular conditions. CHDH activity affects choline availability in the body, influencing liver function, brain development, and nervous system health. Research into CHDH can provide insights into nutritional requirements and potential interventions for metabolic disorders....



CHDH

BCAT1 (Branched Chain Amino Acid Transaminase 1): BCAT1 is a pivotal enzyme in the metabolism of branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine. Located primarily in the cytosol of tissues such as the brain and in various tumors, BCAT1 catalyzes the reversible transamination of BCAAs to their corresponding α-keto acids, initiating their catabolic pathway. This enzyme plays an essential role in nitrogen homeostasis and the synthesis of neurotransmitters in the brain, influencing cognitive functions and neurodevelopment. Beyond its metabolic functions, BCAT1 is implicated in the proliferation and metabolism of cancer cells, highlighting its potential as a biomarker...



BCAT1

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1): B3GALNT1 is involved in glycosylation, a process essential for the proper function of many proteins. It synthesizes a type of glycan structure important for cell-cell adhesion and signaling. Mutations in B3GALNT1 can lead to muscular dystrophy-dystroglycanopathy, a group of disorders affecting muscle function....

B3GALNT1

IGF2 (Insulin-Like Growth Factor 2): IGF2 plays a crucial role in growth and development, particularly during fetal development. It is part of the insulin-like growth factor system, which has significant effects on cell growth, proliferation, and survival. IGF2 is also involved in muscle growth and differentiation and has been linked to various cancers due to its cell proliferation-promoting effects. The regulation of IGF2 is important in understanding growth disorders and potential cancer therapies....

IGF2

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....

ETV3 (ETS Variant Transcription Factor 3): ETV3 is part of the ETS family of transcription factors, known for their roles in regulating gene expression involved in cell growth, development, and differentiation. ETV3 acts primarily as a transcriptional repressor and is involved in various biological processes, including immune response regulation....

ETV3

BCL11B (B-Cell CLL/Lymphoma 11B): BCL11B is a transcription factor that plays a critical role in the development and differentiation of T-cells. It is also involved in neuronal development. Mutations or dysregulation in BCL11B have been linked to various types of hematological malignancies, including T-cell acute lymphoblastic leukemia, and to neurodevelopmental disorders....



BCL11B

FSHR, or Follicle-Stimulating Hormone Receptor, is a G protein-coupled receptor (GPCR) primarily expressed on the surface of ovarian granulosa cells in females and Sertoli cells in males. It plays a crucial role in the regulation of reproductive function by mediating the effects of follicle-stimulating hormone (FSH), a glycoprotein hormone secreted by the anterior pituitary gland. One of the primary functions of FSHR is its role in folliculogenesis, the process by which ovarian follicles develop and mature. In females, FSH binds to FSHR on granulosa cells within ovarian follicles, leading to a cascade of intracellular signaling events that promote follicle growth, proliferation,...

FSHR

BCL2L1 (BCL2 Like 1): BCL2L1, also known as Bcl-xL, is a member of the Bcl-2 protein family that plays a pivotal role in the regulation of apoptosis, or programmed cell death. By inhibiting the release of pro-apoptotic factors from mitochondria, BCL2L1 promotes cell survival and is crucial for maintaining cellular integrity under stress conditions. It is expressed in a variety of tissues and is involved in the development and progression of diseases, including cancer, by helping cancer cells evade apoptosis. The overexpression of BCL2L1 has been associated with resistance to chemotherapy and poor prognosis in various types of cancer....



BCL2L1

GATA3 (GATA Binding Protein 3): GATA3 is a transcription factor that plays a key role in the development and differentiation of various cell types, including T cells and mammary gland cells. It is essential for immune responses and breast tissue development. Mutations in GATA3 can lead to immunodeficiency and breast cancer....

GATA3

BCO1 (Beta-Carotene Oxygenase 1): BCO1 is responsible for the conversion of beta-carotene to retinal, a form of vitamin A, which is essential for vision, immune function, and cellular communication. This gene's activity influences how efficiently dietary beta-carotene is converted into vitamin A, impacting vitamin A status and related health outcomes. Variations in BCO1 can affect an individual's response to dietary beta-carotene and risk of vitamin A deficiency....



BCO1

SHLD1 (Shieldin Complex Subunit 1): SHLD1 is a component of the shieldin complex, which plays a key role in DNA repair. It is involved in the repair of double-strand breaks, particularly in non-homologous end joining, a crucial process for maintaining genomic stability and preventing mutagenesis....



SHLD1

XDH, or Xanthine dehydrogenase, is an enzyme that plays a crucial role in purine metabolism, a pathway responsible for the synthesis and degradation of purine nucleotides such as adenine and guanine. XDH catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid, the final product of purine degradation in humans. One of the primary functions of XDH is its involvement in the breakdown of purines to uric acid, a process essential for the elimination of excess purines from the body. Purines are derived from dietary sources and the breakdown of nucleic acids, and their metabolism is tightly regulated to...

CSK (C-Src Tyrosine Kinase): CSK is a key regulatory enzyme that phosphorylates and thereby inhibits Src family tyrosine kinases, crucial components in signaling pathways for cell growth, differentiation, and survival. Dysregulation of CSK activity can lead to aberrant cellular signaling, contributing to the development of cancer and other diseases. Understanding CSK's regulatory mechanisms provides insights into the control of cell signaling and offers potential avenues for therapeutic intervention in diseases driven by tyrosine kinase dysregulation....



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....



BDNF

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) functions similarly to its counterpart, BHMT, in homocysteine metabolism, crucial for cardiovascular and neurological well-being. It assists in converting homocysteine to methionine, albeit less extensively studied than BHMT. This gene's activity impacts homocysteine levels in the body, with potential implications for heart health and neurological conditions. Understanding BHMT2's role could further clarify its contribution to metabolic pathways and disease risk....



BHMT2

ZBTB49 (Zinc Finger and BTB Domain Containing 49): ZBTB49 is a transcription factor that likely plays a role in gene regulation through DNA binding and chromatin remodeling. Members of the ZBTB family are involved in various cellular processes, including proliferation, differentiation, and development. While specific functions of ZBTB49 are not well-characterized, its participation in transcriptional regulation suggests it could impact cell fate decisions and has potential implications for cancer and developmental disorders....

ZBTB49

ACTN3: ACTN3, or Alpha-actinin-3, is a gene that encodes a protein primarily found in fast-twitch muscle fibers. These fibers are crucial for rapid and powerful muscle contractions, commonly associated with explosive athletic performance. Variations in this gene, particularly the R577X polymorphism, have been linked to differing capabilities in sprint and endurance activities, making it a gene of interest in sports genetics....

ACTN3

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1): Similar to MMP15's role in extracellular matrix (ECM) dynamics, EPDR1 is implicated in cellular signaling pathways that regulate various physiological processes, including cell proliferation, survival, and differentiation. As a member of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 interacts with key signaling molecules involved in growth factor signaling cascades, modulating downstream signaling events. This protein plays a critical role in mediating cellular responses to extracellular stimuli, such as growth factors and cytokines, thereby influencing cell fate decisions and tissue homeostasis. Dysregulation of EPDR1 expression or activity has...

EPDR1

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): VWC2L is a less-characterized protein with a von Willebrand factor C domain, typically involved in extracellular matrix interactions and cell adhesion processes. It might play a role in tissue development and integrity, but its specific functions in human physiology and pathology remain to be fully explored....




VWC2L

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2): BLOC1S2 is part of a protein complex involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet dense granules. Dysfunctions in BLOC1S2 can affect organelle formation and function, potentially leading to disorders related to pigmentation or blood clotting....



BLOC1S2

CHODL (Chondrolectin): CHODL encodes a protein that may be involved in cell adhesion and chondrocyte differentiation. Its exact function is not fully understood, but it may have roles in cartilage formation and musculoskeletal development....



CHODL

FLG (Filaggrin): FLG encodes a protein crucial for skin barrier function. Mutations in FLG are strongly associated with skin conditions like atopic dermatitis (eczema) and can increase the risk of other allergic 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....

FCRL3

EPAS1 (Endothelial PAS Domain Protein 1): Also known as HIF-2alpha, EPAS1 is a transcription factor that responds to low oxygen levels in tissues. It plays a significant role in the physiological adaptation to hypoxia, regulating genes involved in erythropoiesis, iron metabolism, and vascularization. EPAS1 is implicated in high-altitude adaptation and various diseases, including certain cancers....

EPAS1

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT): ATP5PD is a component of the mitochondrial ATP synthase, playing a role in cellular energy production. It is involved in the synthesis of ATP, the primary energy carrier in cells, and is crucial for maintaining mitochondrial function and overall cellular metabolism....




ATP5PD

SLC7A1 (Solute Carrier Family 7 Member 1): This gene encodes a transporter protein involved in the uptake of amino acids, particularly arginine and lysine. It's important in cell growth and nitric oxide synthesis. SLC7A1's role in immune responses and certain cancers makes it a focus in medical research....



SLC7A1

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit): CHRNB3 is another subunit of the nicotinic acetylcholine receptor, and like CHRNA4, is involved in cholinergic neurotransmission. Genetic variations in CHRNB3 are associated with nicotine dependence and related behavioral traits, highlighting its role in the addictive properties of nicotine and potential influence on neural circuitry involved in addiction....



CHRNB3

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3): IGFBP3 encodes a protein that binds to insulin-like growth factors (IGFs), regulating their bioavailability. This regulation has a profound impact on cell growth, development, and metabolism. IGFBP3 is of particular interest in cancer research, as it can either inhibit or enhance the actions of IGFs, depending on cellular contexts, making it a key player in tumorigenesis and therapeutic strategies....

IGFBP3

ATP5MK (ATP Synthase Membrane Subunit K): ATP5MK is part of the mitochondrial ATP synthase complex, which is crucial for ATP production in cellular respiration. It plays a role in the energy metabolism of cells, and dysfunctions in ATP5MK can affect cellular energy levels, potentially contributing to metabolic disorders....

ATP5MK

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....



SLC2A9

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): ENOX1 is involved in the transfer of electrons across the cell membrane and may play a role in cellular redox homeostasis. Its function is associated with cell growth regulation and the aging process, although its specific role in human physiology and pathology is not fully understood....

ENOX1

SSBP3 (Single Stranded DNA Binding Protein 3): SSBP3 is involved in DNA repair and replication processes. It binds to single-stranded DNA and may play a role in maintaining genomic stability. Its function is critical in cellular response to DNA damage and has potential implications in cancer biology....

SSBP3

CSF3R (Colony Stimulating Factor 3 Receptor): CSF3R is the receptor for colony-stimulating factor 3 (CSF3), a cytokine that controls the production, differentiation, and function of granulocytes. The interaction of CSF3 with its receptor is crucial for the survival and activation of neutrophils, essential components of the innate immune response. Mutations or overexpression of CSF3R can lead to disorders of granulocyte function and proliferation, including chronic neutrophilic leukemia and severe congenital neutropenias, highlighting its role in hematopoiesis and immune defense....



CSF3R

ARL4A (ADP-Ribosylation Factor-Like 4A): ARL4A is a member of the ADP-ribosylation factor (ARF) family of small GTPases. It participates in intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in the regulation of membrane remodeling processes, including vesicle formation and membrane fusion events....

ARL4A

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N): PIGN is involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which are used to attach certain proteins to the cell membrane. GPI-anchored proteins play critical roles in cell adhesion, signal transduction, and immune response. Mutations in PIGN can lead to GPI anchor biosynthesis disorders, characterized by a wide range of symptoms including developmental delays, neurological issues, and congenital anomalies, reflecting the importance of GPI-anchored proteins in human physiology....

PIGN

BTBD7 (BTB Domain Containing 7): BTBD7 plays a key role in regulating epithelial-mesenchymal transition (EMT), a critical process in embryonic development, wound healing, and tumor metastasis. It functions by modulating the cytoskeletal architecture, thereby influencing cell shape, migration, and invasion. Dysregulation of BTBD7 has been linked to fibrosis and cancer progression, underlining its importance in tissue remodeling and its potential as a target for therapeutic intervention in fibrotic diseases and metastatic cancers....



BTBD7

ANAPC4 (Anaphase Promoting Complex Subunit 4): ANAPC4 is a component of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It is involved in marking proteins for degradation, thus controlling the progression of cells through the cell cycle. Dysregulation of ANAPC4 can lead to cell cycle abnormalities, with potential implications for cancer development and progression....

ANAPC4

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....




UNCX

ATP1B2, also known as Sodium/potassium-transporting ATPase subunit beta-2, is a protein that serves as a subunit of the sodium-potassium ATPase (Na+/K+-ATPase) pump. This pump is crucial for maintaining the electrochemical gradients of sodium and potassium ions across cell membranes, a process essential for numerous physiological functions, including nerve conduction, muscle contraction, and regulation of cell volume. As a subunit of the Na+/K+-ATPase pump, ATP1B2 plays an indispensable role in the assembly, stability, and function of the pump complex. It interacts with the catalytic alpha subunit of the pump, ATP1A1 or ATP1A2, and helps to anchor the complex to the cell membrane....

ATP1B2

B4GALT6, also known as Beta-1,4-galactosyltransferase 6, is a key enzyme involved in the biosynthesis of complex carbohydrates known as glycosaminoglycans (GAGs). Positioned primarily within the Golgi apparatus of cells, B4GALT6 plays a crucial role in catalyzing the transfer of galactose residues from UDP-galactose to acceptor substrates, leading to the formation of specific glycosidic linkages. One of the primary functions of B4GALT6 is its involvement in the biosynthesis of proteoglycans, a class of glycoproteins containing GAG chains. Specifically, B4GALT6 catalyzes the addition of galactose residues to the core protein structure of proteoglycans, initiating the assembly of GAG chains such as chondroitin sulfate...

B4GALT6

SLC6A2 (Solute Carrier Family 6 Member 2): SLC6A2, also known as the norepinephrine transporter, is responsible for the reuptake of norepinephrine into presynaptic nerve terminals. It is a target for certain antidepressants and plays a role in regulating mood and alertness. Dysfunctions in SLC6A2 are implicated in psychiatric and neurological disorders, including depression and attention deficit hyperactivity disorder (ADHD)....



SLC6A2

ATF7 (Activating Transcription Factor 7): ATF7 is a member of the ATF/CREB family of transcription factors and plays a pivotal role in cellular stress response, apoptosis, and development. It regulates the expression of genes involved in response to cellular stressors and contributes to neuronal differentiation and survival. Dysregulation of ATF7 activity has been linked to various stress-related conditions, including neurodegenerative diseases and cancer, underscoring its importance in maintaining cellular homeostasis and response to damage....

ATF7

ARL4C (ADP Ribosylation Factor Like GTPase 4C): ARL4C is a member of the ADP-ribosylation factor family of GTP-binding proteins, involved in cellular signaling and membrane trafficking. It plays a role in cytoskeletal organization and cell motility, and its expression has been linked to the development and progression of certain cancers....

ARL4C

WNK1 (WNK Lysine Deficient Protein Kinase 1): WNK1 is a serine/threonine kinase involved in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, influencing fluid balance and blood pressure. Mutations in WNK1 can lead to hereditary hypertension and electrolyte imbalances, making it a key gene in understanding certain forms of high blood pressure....




WNK1

SPATA2L (Spermatogenesis-associated protein 2-like): SPATA2L is a protein that shares sequence similarity with SPATA2, a known regulator of cell death and inflammation pathways. While the specific function of SPATA2L is still being elucidated, studies suggest its potential involvement in cellular processes such as apoptosis, autophagy, and immune response regulation. SPATA2L may play a role in modulating signaling pathways involved in cell survival and death decisions, similar to its homolog SPATA2. These pathways are critical for maintaining tissue homeostasis and responding to cellular stressors, such as DNA damage or infection. Dysregulation of SPATA2L expression or function could potentially impact these processes, leading...

SPATA2L

BAIAP2L1, also known as Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1, is a protein encoded by the BAIAP2L1 gene. It belongs to the I-BAR domain-containing protein family and is involved in various cellular processes, including actin cytoskeleton remodeling, membrane dynamics, and cell signaling. One of the primary functions of BAIAP2L1 is its role in regulating actin dynamics and cytoskeletal organization. It contains an I-BAR (inverse Bin-Amphiphysin-Rvs) domain, which allows it to bind to and induce curvature in membranes, particularly at sites of membrane protrusions such as filopodia and lamellipodia. Through its ability to interact with actin filaments and membrane phospholipids,...




BAIAP2L1

FADS2 (Fatty Acid Desaturase 2): FADS2 is an enzyme involved in the biosynthesis of polyunsaturated fatty acids, which are essential components of cell membranes and precursors of signaling molecules. Variations in FADS2 can affect the metabolism of essential fatty acids and are linked to metabolic and inflammatory diseases....

FADS2

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....

AS3MT

EGR2 (Early Growth Response 2): EGR2 is a transcription factor involved in the regulation of neuronal and immune system development. It plays a crucial role in myelination in the peripheral nervous system and is implicated in the control of cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its importance in neural development and function....

EGR2

ALG13 (Asparagine-Linked Glycosylation 13): ALG13 is a gene encoding a subunit of the UDP-N-acetylglucosaminyltransferase complex, involved in the early stages of glycosylation. Glycosylation is a critical post-translational modification process where carbohydrates are attached to proteins or lipids, affecting their folding, stability, and function. ALG13 plays a crucial role in the biosynthesis of the glycan precursor, essential for proper protein glycosylation in the endoplasmic reticulum. Mutations in the ALG13 gene have been linked to congenital disorders of glycosylation, which can result in a wide range of clinical symptoms, including developmental delay, epilepsy, and metabolic abnormalities. This highlights the gene's importance in...




ALG13

ARHGAP32 (Rho GTPase Activating Protein 32): ARHGAP32 is involved in the regulation of the Rho family of GTPases, key molecules in controlling cell shape, attachment, and motility. It plays a significant role in the dynamics of the actin cytoskeleton, affecting cellular processes like migration and proliferation. ARHGAP32's function is of interest in the context of neurological development and disorders, as well as in cancer, where cell migration and invasion are critical....

ARHGAP32

PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function....

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit): CHRNB2 encodes a subunit of the nicotinic acetylcholine receptors, which are important for neuronal signaling. Mutations in this gene have been associated with epilepsy, particularly nocturnal frontal lobe epilepsy, underscoring its role in neuronal excitability and synaptic transmission....



CHRNB2

FDX1 (Ferredoxin 1): FDX1 plays a crucial role in mitochondrial electron transport, facilitating the transfer of electrons in various metabolic processes, including steroid hormone biosynthesis and detoxification reactions. It is a key component in the synthesis of iron-sulfur clusters, essential cofactors for many enzymes. Dysregulation of FDX1 has implications for energy metabolism and has been explored in the context of diseases related to mitochondrial function....

FDX1

WNT7B (Wnt Family Member 7B): WNT7B is part of the Wnt signaling pathway, playing a critical role in embryonic development, cell proliferation, and differentiation. This pathway is essential for the regulation of gene expression, cellular architecture, and tissue repair. Aberrant WNT7B signaling has been associated with various pathologies, including developmental disorders, fibrosis, and cancer, particularly in the regulation of tumor growth and metastasis, emphasizing its significance in cellular growth and disease progression....

WNT7B

BTN2A2 (Butyrophilin Subfamily 2 Member A2): BTN2A2 encodes a protein belonging to the butyrophilin family, which is involved in immune regulation. These proteins can modulate immune responses, particularly in the context of T-cell activation. BTN2A2 may play a role in regulating immune reactions and could impact the immune system's ability to respond to pathogens and antigens....



BTN2A2

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....



SLC6A16

WSCD1 (WSC Domain Containing 1): WSCD1 is a relatively less-characterized gene and is believed to be involved in cell wall integrity and stress response in yeast. In humans, its precise function is not well established, but it may play a role in cellular responses to environmental stress. Understanding WSCD1's function could provide insights into mechanisms of cellular adaptation and survival under stress conditions....

WSCD1

BTN3A2 (Butyrophilin Subfamily 3 Member A2): BTN3A2 is part of the butyrophilin protein family, which is involved in the regulation of immune responses, particularly in T cell activation and differentiation. This protein plays a role in the modulation of immune surveillance and has been implicated in autoimmune diseases and cancer. Understanding the function of BTN3A2 and its interactions with other immune components is crucial for developing therapies targeting immune regulation....



BTN3A2

SIVA1 (SIVA1 Apoptosis-Inducing Factor): SIVA1 steps onto the stage as a conductor of cellular destiny, playing a role in the intricate symphony of programmed cell death, known as apoptosis. Its influence extends to the regulation of cell survival and death pathways, holding the balance between life and death within our cells. Researchers delve into the complexities of SIVA1's role in apoptosis, seeking to understand its contributions to cellular fate and disease....



SFTPA1

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