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240 genes
DNA Fatigue Test
Test type
Lab Test
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Saliva
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See allDo you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.
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.
Save more by bundling DNA tests. Order multiple tests together for better value from our wide range.
- In stock
- At-home test
- Results 6-8 weeks
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What is analyzed in the test?
Low Energy (Chronic Fatigue)
ADRB2ANKK1ARSABLMHCELF4CFHCOMTDRD3EXD3GRIA1MAPTMEGF9NLGN1NR3C1NTMSHISA4SPATA32TCF4THAP2
ADRB2 (Adrenoceptor Beta 2): ADRB2 encodes the beta-2-adrenergic receptor, which is involved in the 'fight or flight' response. It mediates smooth muscle relaxation in the airways and blood vessels and is a target for drugs treating asthma and COPD. Genetic variations in ADRB2 can affect an individual's response to these medications.
ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is involved in signal transduction and potentially in the regulation of dopamine receptors, which are important for brain function. Variants near the ANKK1 gene have been linked to neuropsychiatric disorders and addiction, possibly due to their influence on dopamine signaling.
ARSA (Arylsulfatase A): ARSA is a pivotal enzyme responsible for breaking down sulfatides, complex lipids found in various tissues, especially in the nervous system. When ARSA is deficient due to genetic mutations, it leads to Metachromatic Leukodystrophy (MLD), a rare neurodegenerative disorder. In MLD, the accumulation of sulfatides in the nervous system causes progressive demyelination of nerve cells, resulting in severe neurological symptoms. Research aims to understand ARSA deficiency better and develop treatments like enzyme replacement therapy to alleviate the devastating effects of MLD.
BLMH (Bleomycin Hydrolase): BLMH is an enzyme crucial for metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin is effective in treating cancer by causing DNA damage in cancer cells, but it can also lead to lung toxicity as a side effect. BLMH plays a pivotal role in breaking down bleomycin into harmless compounds, reducing the risk of lung toxicity. Understanding BLMH's function is vital for optimizing cancer treatment and managing its side effects, particularly in patients receiving bleomycin-based therapies. Researchers are actively exploring strategies to enhance the safety and effectiveness of cancer treatments involving bleomycin.
CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene encoding an RNA-binding protein that is part of the CUGBP/Elav-like family. RNA-binding proteins like CELF4 can influence RNA processing and post-transcriptional regulation of gene expression. CELF4's functions likely extend to RNA metabolism and regulation, potentially impacting various cellular processes.
CFH (Complement Factor H): CFH is a gene that plays a crucial role in the immune system, specifically in the regulation of the complement pathway. The complement system is part of the body's innate immunity, providing a rapid response to microbial infections. CFH produces a protein that controls the activity of the complement system, preventing it from damaging the body's own cells. Mutations in the CFH gene are linked to various diseases, including age-related macular degeneration (AMD), atypical hemolytic-uremic syndrome (aHUS), and certain types of kidney disease. The study of CFH is vital in understanding these conditions and developing targeted treatments.
COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a key role in the metabolism of catecholamines, such as dopamine, epinephrine, and norepinephrine. It is important in the regulation of neurotransmitters in the brain and is implicated in psychiatric disorders, including schizophrenia. COMT is also involved in the pain response and has been studied in relation to pain sensitivity and various psychiatric conditions.
DRD3 (Dopamine Receptor D3): DRD3 is another dopamine receptor subtype, expressed in the brain. It's involved in cognitive, emotional, and motor functions. Variants in DRD3 have been studied in relation to schizophrenia, Parkinson's disease, and susceptibility to addictive behaviors.
EXD3: EXD3, or Exonuclease 3'-5' Domain Containing 3, is a gene that is not as widely known or studied as some other genes, but it plays a significant role in cellular processes. The protein encoded by the EXD3 gene is thought to be involved in RNA processing and the regulation of gene expression. Although the full range of functions of EXD3 is still under investigation, it is believed to be crucial in maintaining the stability and integrity of RNA, which is essential for the proper functioning of cells. Mutations or alterations in EXD3 could potentially impact various biological pathways and processes, indicating its importance in cellular health and disease.
GRIA1: GRIA1, or Glutamate Ionotropic Receptor AMPA Type Subunit 1, is a gene that encodes a key subunit of AMPA receptors, which are crucial for fast synaptic transmission in the brain. These receptors are responsive to the neurotransmitter glutamate, which is the most abundant excitatory neurotransmitter in the vertebrate nervous system. The GRIA1 subunit is integral in mediating synaptic plasticity, a foundation for learning and memory. Dysfunctions or mutations in GRIA1 have been implicated in various neurological disorders, including epilepsy and neurodegenerative diseases, making it a significant focus in neuroscience research.
MAPT (Microtubule Associated Protein Tau): MAPT encodes the tau protein, which stabilizes microtubules in neurons. Abnormal aggregation of tau is a hallmark of neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia, making it a key focus in neurodegenerative research.
MEGF9 (Multiple EGF-Like-Domains 9): MEGF9 is associated with cell adhesion and signaling processes. Its role in neural development is particularly noteworthy, as it may influence the formation and maintenance of the nervous system's structure and function. Research into MEGF9 may provide insights into developmental neural disorders and potential therapeutic approaches for these conditions.
NLGN1 (Neuroligin 1): Neuroligin 1, encoded by NLGN1, is a key player in the formation and modulation of synapses in the nervous system. It is crucial for synaptic specialization and the regulation of synaptic strength, impacting learning, memory, and overall brain function. NLGN1 has been a focus in the study of autism spectrum disorders and other neurodevelopmental conditions, given its critical role in synaptic development and plasticity.
NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 encodes the glucocorticoid receptor, which mediates the effects of glucocorticoids, a class of steroid hormones. This receptor is involved in diverse processes including stress response, immune function, and metabolism. Dysregulation of NR3C1 is associated with various stress-related disorders, inflammatory conditions, and metabolic diseases. It plays a crucial role in the body's response to stress and inflammation, making it a significant target in the treatment of a range of conditions from autoimmune diseases to psychiatric disorders.
NTM (Neurotrimin): NTM is a neural cell adhesion molecule that contributes to the formation of neural networks. It plays a role in neural development, particularly in neurite outgrowth and synaptic plasticity. Research into NTM is important for understanding the mechanisms underlying neural development and for investigating its potential involvement in neurodevelopmental disorders.
SHISA4 (Shisa Family Member 4): SHISA4 is involved in the regulation of synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, and is implicated in the regulation of neuronal signaling and plasticity. Its role in synaptic modulation makes it a gene of interest in the study of neurological disorders and synaptic dysfunctions.
SPATA32 (Spermatogenesis Associated 32): SPATA32 is primarily expressed in the testis and is believed to play a role in spermatogenesis. Its exact function in male reproductive health and fertility is not fully understood, but it is considered significant in the study of reproductive biology and potentially in fertility-related research and treatments.
TCF4 (Transcription Factor 4): TCF4 is a transcription factor that plays an important role in the development of the nervous system. It is involved in neurodevelopmental processes and has been linked to psychiatric disorders, including schizophrenia. TCF4's role in gene regulation is crucial for proper brain development and function.
THAP2 (THAP Domain Containing 2): THAP2 is a member of the THAP domain-containing family of proteins, characterized by a specific DNA-binding domain. These proteins are involved in cell proliferation, apoptosis, and regulation of gene expression. The specific functions of THAP2 are not fully understood, but it may play a role in transcriptional regulation.
Red Blood Cells
ATP2B4BET1LC11ORF21FADS2FARSAIKZF1KITLMF2MAP4K5PIEZO1PRKAG2PTPRCSBF2TBX2THRBTMEM72
ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4): ATP2B4 encodes a calcium pump responsible for the removal of calcium from cells. It plays a key role in intracellular calcium homeostasis, affecting muscle contraction, cell signaling, and neuronal activity. Dysregulation of ATP2B4 is implicated in cardiovascular diseases.
BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L plays a crucial role in the vesicular transport system, specifically in the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is fundamental for the proper secretion and processing of proteins, which is essential for various cellular functions, including cell signaling, metabolism, and maintenance of cell structure. BET1L's role in this transport system makes it critical for normal cellular operation and the maintenance of cellular homeostasis.
C11ORF21 (Chromosome 11 Open Reading Frame 21): C11ORF21 represents a gene with currently unknown specific functions. It is one of many genes that have been identified through genomic sequencing but whose roles in cellular processes and potential links to diseases are still under investigation. The study of such genes is part of ongoing research to uncover new aspects of human biology and pathology.
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.
FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is involved in the translation process of protein synthesis, specifically in attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations in FARSA or dysregulation of its activity can lead to errors in protein synthesis, potentially causing a range of cellular dysfunctions and contributing to disease processes.
IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 encodes a zinc finger transcription factor crucial for immune cell development and differentiation, particularly in B cells. It is frequently mutated in B-cell acute lymphoblastic leukemia (B-ALL), highlighting its pivotal role in hematopoiesis and immune system function. IKZF1's interactions with various genes and its role in maintaining immune homeostasis make it a subject of intense investigation in immunology and oncology.
KIT, also known as the CD117 antigen, is a gene that encodes a protein critical for various cellular processes. This protein functions as a receptor tyrosine kinase involved in cell growth, differentiation, and survival. It plays a pivotal role in the development and function of several cell types, including melanocytes, germ cells, and hematopoietic cells. Understanding KIT's mechanisms could unlock new avenues for treating cancers and other conditions where KIT signaling is aberrant. Exploring its pathways offers potential for targeted therapies, making KIT a key focus in medical research.
LMF2 (Lipase Maturation Factor 2): LMF2 is important for the maturation and proper functioning of lipases, enzymes that play a critical role in lipid metabolism. It is involved in the processing and activation of lipases within the endoplasmic reticulum. Defects in LMF2 can lead to dyslipidemia and other metabolic disorders related to lipid metabolism.
MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5, part of the MAP kinase signaling cascade, is involved in transmitting signals from the cell surface to the nucleus, affecting various cellular responses such as inflammation and immune reactions. It plays a role in stress responses and has been implicated in immune system regulation and potentially in autoimmune diseases.
PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that plays a critical role in sensing mechanical stimuli like pressure and stretch in various tissues, including blood vessels and the lungs. Its function is crucial for vascular development, blood pressure regulation, and cell volume regulation. Mutations in PIEZO1 are linked to hereditary xerocytosis, a condition characterized by dehydrated red blood cells, and to other disorders involving mechanosensation.
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.
PTPRC (Protein Tyrosine Phosphatase, Receptor Type C): PTPRC, also known as CD45, is a key regulator in the immune system. It's a transmembrane protein tyrosine phosphatase essential for activating T and B lymphocytes. PTPRC's role in modulating signal transduction pathways makes it crucial for the immune response, and dysregulation can lead to immune disorders.
SBF2 (SET Binding Factor 2): SBF2 is involved in nerve development and has been linked to Charcot-Marie-Tooth disease, a hereditary neurological disorder that affects peripheral nerves. It plays a role in maintaining the structure and function of peripheral nerves, and mutations in SBF2 lead to nerve degeneration and associated muscle weakness and sensory loss.
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.
THRB (Thyroid Hormone Receptor Beta): THRB encodes a receptor for thyroid hormones, which are crucial for regulating metabolism, development, and growth. Mutations in THRB can lead to resistance to thyroid hormone (RTH), a condition characterized by impaired sensitivity to thyroid hormones, affecting growth and metabolic processes.
TMEM72 (Transmembrane Protein 72): TMEM72 is a less characterized transmembrane protein. Its specific role in cellular processes and potential implications in human diseases are subjects of ongoing research. Transmembrane proteins like TMEM72 often play roles in cellular signaling, transport, and communication, making them significant in various physiological and pathological processes.
Anemia
BCL11ACD101CHD1LIGLV4-60KAZNMAN1A2MXRA8RNF43SLC16A1TAFA3TMPRSS6TRIB2TRIM33VMP1
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.
CD101 (CD101 Molecule): CD101 is a cell surface glycoprotein involved in immune regulation. It plays a role in the activation and suppression of immune cells, particularly in the context of autoimmune diseases and immune responses. Its expression on T cells and other immune cells is important for modulating the immune system's activity.
CHD1L (Chromodomain Helicase DNA Binding Protein 1-Like): CHD1L is a member of the chromodomain helicase DNA-binding family, playing a role in chromatin remodeling and DNA repair. It is involved in maintaining genomic stability and has been implicated in the development and progression of various cancers, particularly liver cancer.
IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is part of the immunoglobulin gene family and is involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies, playing a role in antigen recognition. The diversity of immunoglobulin genes like IGLV4-60 is crucial for the ability of the immune system to respond to a wide array of pathogens.
KAZN (Kazrin, Periplakin Interacting Protein): KAZN, a less characterized protein, interacts with periplakin and is involved in cellular processes related to cytoskeletal organization and cell adhesion. It may play a role in skin integrity and wound healing, although its broader biological functions are still being explored.
MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control in the endoplasmic reticulum, and its dysfunction can affect protein folding and cellular homeostasis.
MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene associated with matrix remodeling, a vital process in tissue development and repair. While its specific roles are still being explored, MXRA8's involvement in extracellular matrix interactions suggests potential contributions to tissue homeostasis and regeneration. Understanding its functions may hold implications for tissue engineering and regenerative medicine.
RNF43 (Ring Finger Protein 43): RNF43 is an E3 ubiquitin ligase involved in the negative regulation of the Wnt signaling pathway. It is crucial for cell proliferation and differentiation, and mutations in RNF43 are associated with various types of cancers, particularly colorectal and endometrial cancers.
SLC16A1 (Solute Carrier Family 16 Member 1): SLC16A1, also known as MCT1, is a transporter protein that facilitates the rapid transport of lactate and other monocarboxylates across cell membranes. It plays a key role in lactate metabolism, important in various physiological and pathological processes, including exercise physiology and cancer metabolism.
TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins that are similar to chemokines, involved in immune responses and inflammatory processes. The specific role of TAFA3 is not well understood, but it is thought to be involved in the regulation of immune cell activity and may play a role in neuroinflammation.
TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is important in iron regulation, specifically in the control of hepcidin, a key regulator of iron absorption. Mutations in TMPRSS6 can lead to iron-refractory iron deficiency anemia (IRIDA), a condition characterized by anemia that does not respond to oral iron therapy.
TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in various cellular processes, including cell proliferation and survival. It acts as a modulator of signaling pathways and has been implicated in cancer development, particularly in leukemias.
TRIM33 (Tripartite Motif Containing 33): TRIM33 is an E3 ubiquitin ligase involved in transcriptional regulation and DNA repair. It plays a role in chromatin remodeling and has been implicated in the regulation of stem cell differentiation and in the suppression of tumorigenesis.
VMP1 (Vacuole Membrane Protein 1): VMP1 is involved in autophagy, a critical cellular process for degrading and recycling cellular components. It's particularly important for the formation of autophagosomes, structures that encapsulate cellular material for degradation. Dysregulation of VMP1 can impact cellular homeostasis and is implicated in various diseases, including pancreatitis and some forms of cancer.
Iron
CARMIL1CDH19CLDN11DTWD2ERGHFEIGLV4-60IRX2MAPRE1NOTCH4PLCG2SCGNSLC24A2TMC5TMPRSS6ZFAT
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.
CDH19 (Cadherin 19): CDH19 belongs to the cadherin family, which are key molecules in cell-cell adhesion, crucial for tissue integrity. CDH19 is particularly important in the nervous system, where it's involved in neuron-neuron interactions and plays a role in neural development. It has been studied in relation to neurodevelopmental disorders, including autism spectrum disorders.
CLDN11 (Claudin 11): CLDN11 encodes a component of tight junctions, structures that are critical for maintaining the barrier function in tissues. It is particularly important in the central nervous system and the testes, where it plays a role in myelin sheath formation and spermatogenesis. Mutations in CLDN11 can result in neurological and reproductive issues.
DTWD2 (DTW Domain Containing 2): DTWD2 is a relatively less characterized gene but is believed to be involved in protein ubiquitination, a process crucial for protein degradation and regulation. It may play a role in cellular protein quality control and has potential implications in various cellular processes, including cell cycle regulation and response to stress.
ERG (ETS Transcription Factor ERG): ERG is a member of the ETS transcription factor family and plays a key role in blood vessel development, hematopoiesis, and bone development. Aberrations in ERG have been implicated in the development of certain cancers, particularly prostate cancer and Ewing sarcoma.
HFE (Homeostatic Iron Regulator): The HFE gene is involved in the regulation of iron absorption and homeostasis. Mutations in HFE can lead to hereditary hemochromatosis, a condition characterized by excessive iron accumulation in the body, leading to organ damage.
IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is part of the immunoglobulin gene family and is involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies, playing a role in antigen recognition. The diversity of immunoglobulin genes like IGLV4-60 is crucial for the ability of the immune system to respond to a wide array of pathogens.
IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor part of the Iroquois homeobox gene family, playing a significant role in embryonic development. It's involved in the patterning and morphogenesis of various tissues, including the heart and neural tissues. Dysregulation of IRX2 has been implicated in developmental disorders and potentially in cancer.
MAPRE1 (Microtubule-Associated Protein, RP/EB Family, Member 1): MAPRE1, also known as EB1, is involved in the stabilization and regulation of microtubules, crucial components of the cell's cytoskeleton. It plays a key role in cell division and chromosome segregation and is important in neuronal development and cancer biology.
NOTCH4 (Notch Receptor 4): NOTCH4 is part of the Notch receptor family, which are key players in cell-to-cell communication, regulating cell fate decisions during development. NOTCH4 is particularly involved in vascular development and immune function. Abnormal NOTCH4 signaling can lead to developmental disorders and has been linked to diseases and certain types of cancer.
PLCG2 (Phospholipase C Gamma 2): PLCG2 plays a crucial role in intracellular signaling pathways, particularly in immune cells. It's involved in the hydrolysis of phosphatidylinositol 4,5-bisphosphate, a key step in the activation of the protein kinase C pathway. Mutations in PLCG2 are associated with immune-related disorders and have been studied in the context of autoinflammatory diseases.
SCGN (Secretagogin): SCGN is a calcium-binding protein predominantly expressed in neuroendocrine cells. It's involved in the regulation of hormone secretion and cellular signaling. SCGN has potential roles in neuroprotective mechanisms and has been studied in relation to neurological disorders like Alzheimer's disease.
SLC24A2 (Solute Carrier Family 24 Member 2): SLC24A2 encodes a potassium-dependent sodium/calcium exchanger, which is important for calcium homeostasis in cells. It's particularly expressed in the retina and the brain, suggesting roles in neural function and vision. Mutations or dysfunction in SLC24A2 can have implications for neurological and visual disorders.
TMC5 (Transmembrane Channel Like 5): TMC5 is a member of the TMC family, which are proposed to function as ion channels or transporters. The specific role of TMC5 is not well characterized, but it may be involved in sensory processes or cellular homeostasis. Its function and implications in health and disease are still being explored.
TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is important in iron regulation, specifically in the control of hepcidin, a key regulator of iron absorption. Mutations in TMPRSS6 can lead to iron-refractory iron deficiency anemia (IRIDA), a condition characterized by anemia that does not respond to oral iron therapy.
ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor believed to play a role in immune function and cell survival. It has been implicated in autoimmune diseases and is studied for its role in lymphocyte development and function.
Hemoglobin
ADALADMEGLN2ENGEPAS1ESR2FBXO24HBZKITMAP4K5NRIP1OPTCPIEZO1PPP1R3BPRKAG2SLC20A2TBX2UNCX
ADAL (Adenosine Deaminase-Like): ADAL is a protein similar to adenosine deaminase, which is involved in purine metabolism. It plays a role in the breakdown of adenosine, an important molecule for energy transfer and signaling in cells. ADAL's function in adenosine metabolism is critical for maintaining cellular energy balance and nucleotide pool homeostasis.
ADM (Adrenomedullin): ADM is a peptide hormone that plays a role in cardiovascular and circulatory regulation. It has vasodilatory properties, helping to regulate blood pressure and fluid balance. ADM is also involved in immune response modulation and has been studied for its potential protective effects in various cardiovascular diseases.
EGLN2 (Egl-9 Family Hypoxia-Inducible Factor 2): EGLN2 is a prolyl hydroxylase that regulates the stability of hypoxia-inducible factors (HIFs), which are key mediators in cellular response to low oxygen levels. EGLN2 is involved in cellular adaptation to hypoxia and has implications in cancer biology, as HIFs are often upregulated in tumors.
ENG (Endoglin): ENG is a glycoprotein involved in vascular development and remodeling. It is a component of the TGF-beta receptor complex and plays a critical role in angiogenesis. Mutations in ENG are associated with hereditary hemorrhagic telangiectasia, a disorder that leads to the development of abnormal blood vessels.
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.
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.
FBXO24 (F-Box Protein 24): FBXO24 is part of the F-box protein family, which plays a role in protein degradation via the ubiquitin-proteasome system. It is involved in cell cycle regulation and protein turnover, but its specific physiological functions and implications in diseases are not fully elucidated.
HBZ (Hemoglobin Subunit Zeta): HBZ is a component of embryonic and fetal hemoglobin. It plays a role in oxygen transport during the early stages of development. Alterations in the expression of HBZ are associated with certain hemoglobinopathies and thalassemias.
KIT, also known as the CD117 antigen, is a gene that encodes a protein critical for various cellular processes. This protein functions as a receptor tyrosine kinase involved in cell growth, differentiation, and survival. It plays a pivotal role in the development and function of several cell types, including melanocytes, germ cells, and hematopoietic cells. Understanding KIT's mechanisms could unlock new avenues for treating cancers and other conditions where KIT signaling is aberrant. Exploring its pathways offers potential for targeted therapies, making KIT a key focus in medical research.
MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5, part of the MAP kinase signaling cascade, is involved in transmitting signals from the cell surface to the nucleus, affecting various cellular responses such as inflammation and immune reactions. It plays a role in stress responses and has been implicated in immune system regulation and potentially in autoimmune diseases.
NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It functions as a coactivator for various nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 plays a role in regulating gene expression in response to hormonal signals and is associated with processes such as metabolism and cell growth.
OPTC (Opticin): OPTC is a glycoprotein found in the eye, particularly in the vitreous humor. It is involved in maintaining the structure of the vitreous body and may play a role in ocular development and diseases.
PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that plays a critical role in sensing mechanical stimuli like pressure and stretch in various tissues, including blood vessels and the lungs. Its function is crucial for vascular development, blood pressure regulation, and cell volume regulation. Mutations in PIEZO1 are linked to hereditary xerocytosis, a condition characterized by dehydrated red blood cells, and to other disorders involving mechanosensation.
PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B regulates the activity of protein phosphatase 1, which is involved in glycogen metabolism. It plays a role in controlling glycogen storage in the liver and is implicated in glucose homeostasis and metabolic disorders.
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.
SLC20A2 (Solute Carrier Family 20 Member 2): SLC20A2 is a phosphate transporter involved in phosphate homeostasis. Mutations in this gene can lead to primary familial brain calcification, a condition characterized by abnormal calcium-phosphate deposits in the brain.
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.
Brain Fog
ACTL7BADAMTS16CCDC138CNOT2CNTN2EXOC5MROMRPS9OOSP1PKD2L2PSD3PSG9RAB1A
ACTL7B (Actin-Like 7B): ACTL7B is a member of the actin family, which are key components of the cytoskeleton in cells. Actins are involved in various cellular functions, including maintaining cell shape, motility, and division. The specific role of ACTL7B in these processes is not fully understood, but it may have implications in cell structure and function, particularly in reproductive cells.
ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been associated with various conditions, including kidney and cardiovascular diseases, and it may have implications in fertility.
CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a less characterized protein, potentially involved in cellular structure due to its coiled-coil domain. Such domains are often implicated in protein-protein interactions and cytoskeletal organization. Further research is required to elucidate its precise role in cellular processes and its implications in health and disease.
CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is part of the CCR4-NOT complex, which plays a significant role in regulating gene expression, including mRNA turnover and degradation. It's involved in various aspects of RNA metabolism and can influence cellular processes like development, differentiation, and response to stress.
CNTN2 (Contactin 2): CNTN2, also known as TAG-1, is a neuronal cell adhesion molecule involved in the development and function of the nervous system. It plays a role in the formation of neural circuits and synaptic connections. Mutations in CNTN2 have been linked to neurodevelopmental disorders and may influence neurological functions like learning and memory.
EXOC5 (Exocyst Complex Component 5): EXOC5 is a component of the exocyst, a complex involved in vesicle trafficking. It is essential for the targeted delivery of vesicles to specific locations on the plasma membrane, a process important for cellular communication, secretion, and membrane growth.
MRO (Maestro Heat-Like Repeat Family Member): MRO is a protein with a maestro heat-like repeat, suggesting a role in heat shock response or in the cellular response to stress. The specific functions of MRO in human physiology and its involvement in disease processes are not fully understood and represent an area for further research.
MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is part of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a critical role in the production of proteins necessary for mitochondrial function and energy production. Dysfunctions in MRPS9 can impact mitochondrial efficiency and are potentially linked to mitochondrial disorders, affecting cellular energy metabolism.
OOSP1 (Oocyte Secreted Protein 1): OOSP1 is predominantly expressed in oocytes and is involved in early embryonic development. It may play a role in the maturation of oocytes and in the regulation of processes during fertilization and early embryogenesis. Its function is crucial for reproductive health and successful embryonic development.
PKD2L2 (Polycystic Kidney Disease 2-Like 2): PKD2L2 is a member of the polycystin protein family, associated with calcium channel and signaling functions. While it shares homology with proteins implicated in polycystic kidney disease, its specific role in renal physiology or disease is less clear. PKD2L2 may have broader implications in cellular signaling and calcium homeostasis.
PSD3 (Pleckstrin And Sec7 Domain Containing 3): PSD3 is involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is typically associated with guanine nucleotide exchange factors that activate ARF GTPases, important for vesicle formation and trafficking. Dysfunctions in PSD3 could affect cellular communication and transport processes.
PSG9 (Pregnancy-Specific Glycoprotein 9): PSG9 belongs to the pregnancy-specific glycoprotein family, which plays roles in immune regulation during pregnancy. These proteins are thought to contribute to the maternal tolerance of the fetus and may be involved in fetal development. The specific function of PSG9 in this process and its impact on reproductive health and pregnancy outcomes are areas of ongoing research.
RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is part of the RAB family of small GTPases, which regulate various aspects of vesicle trafficking. RAB1A is specifically involved in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Its role is crucial for maintaining efficient protein transport and processing within the cell.
Low Mood
APEHCRHR1CSNK1G1DPY19L3GPM6AKIAA1109LINGO1MEF2CPTPRTRABGAP1LSLC44A5TCF4UBXN2AVWC2LZCCHC7
APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that degrades acetylated peptides, playing a role in protein turnover and degradation. It's involved in the processing of damaged or misfolded proteins, thereby maintaining protein homeostasis. Dysfunctions in APEH have implications in neurodegenerative diseases and in the response to oxidative stress.
CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator in the stress response. It's involved in the hypothalamic-pituitary-adrenal axis, affecting stress, mood, and behavior. Dysregulation of CRHR1 is implicated in psychiatric disorders, including depression and anxiety.
CSNK1G1 (Casein Kinase 1 Gamma 1): CSNK1G1 is part of the casein kinase 1 family, involved in various cellular processes including cell division, circadian rhythms, and Wnt signaling. Its role in Wnt signaling makes it relevant in developmental processes and potentially in cancer biology.
DPY19L3 (Dpy-19 Like 3): DPY19L3 is a less-characterized member of the DPY19 family, potentially involved in transmembrane transport or protein trafficking. Its precise functions and role in human health are not fully elucidated.
GPM6A (Glycoprotein M6A): GPM6A encodes a glycoprotein primarily expressed in the nervous system, playing a critical role in neurite outgrowth and the formation of neuronal networks. It's involved in the development and maintenance of the myelin sheath, crucial for efficient nerve signal transmission. GPM6A has been implicated in neurological disorders, including schizophrenia and bipolar disorder, due to its role in neuronal plasticity and myelination. Research suggests that alterations in GPM6A expression or function can impact synaptic connectivity and brain function, potentially contributing to the pathophysiology of these neuropsychiatric conditions.
KIAA1109: KIAA1109 is a gene associated with a broad range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its specific function is not fully understood, it is believed to play a role in immune regulation and inflammatory responses. The study of KIAA1109 is significant for understanding the genetic basis of autoimmune disorders and for developing targeted therapies.
LINGO1 (Leucine Rich Repeat and Ig Domain Containing 1): LINGO1 is a key regulator in neural development, particularly in the myelination process of neurons. It acts as a negative regulator of oligodendrocyte differentiation and myelination, and has been implicated in neurodegenerative diseases like multiple sclerosis and Parkinson's disease. Inhibiting LINGO1 has been explored as a therapeutic approach to enhance remyelination and neural repair in these conditions.
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.
PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a member of the protein tyrosine phosphatase family, which plays a pivotal role in cell signaling. PTPRT is involved in the regulation of various cellular processes, including cell growth and differentiation. Mutations in PTPRT have been implicated in several cancers, particularly colorectal cancer, due to its role in signal transduction pathways that control cell proliferation.
RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is involved in intracellular membrane trafficking by regulating RAB GTPases. It plays a key role in vesicle transport and cellular logistics. Dysregulation of RABGAP1L can lead to disturbances in cellular transport mechanisms, and it has been studied in the context of neurological disorders, where proper membrane trafficking is crucial for neuronal function.
SLC44A5 (Solute Carrier Family 44 Member 5): SLC44A5 is a member of the solute carrier family, proteins that facilitate the transport of various substances across cellular membranes. While the specific substrates and physiological roles of SLC44A5 are not fully elucidated, it may be involved in cellular transport processes critical for maintaining homeostasis and cellular function.
TCF4 (Transcription Factor 4): TCF4 is a transcription factor that plays an important role in the development of the nervous system. It is involved in neurodevelopmental processes and has been linked to psychiatric disorders, including schizophrenia. TCF4's role in gene regulation is crucial for proper brain development and function.
UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in the response to cellular stress and in the regulation of protein turnover, which is vital for maintaining cellular health and preventing diseases.
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.
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.
Exercise Recovery
CCL8CCR2CD28COL2A1COL5A1CYBAFTOHGFIGF2IL1BMYLKSLC16A1SLC30A8SPP1STEAP1BTRIM63
CCL8 (C-C Motif Chemokine Ligand 8): CCL8, also known as MCP-2, is a chemokine involved in the immune response. It attracts and activates white blood cells, playing a key role in inflammation and the body's defense against infections. CCL8 has been implicated in various inflammatory and autoimmune diseases.
CCR2 (C-C Motif Chemokine Receptor 2): CCR2 is a receptor for chemokines, including CCL8. It is primarily expressed on immune cells, mediating their migration to inflammation sites. CCR2 is important in the immune response to infections and has been studied in relation to inflammatory diseases, cancer, and HIV infection.
CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells, essential for their full activation and survival. It plays a pivotal role in the immune response, including the development of T cell memory. CD28 signaling is a target for immunotherapeutic drugs, particularly in cancer and autoimmune diseases.
COL2A1 (Collagen Type II Alpha 1 Chain): COL2A1 encodes type II collagen, a major component of cartilage. Mutations in COL2A1 are associated with a variety of skeletal disorders, including osteoarthritis and various forms of chondrodysplasia.
COL5A1 (Collagen Type V Alpha 1 Chain): COL5A1 is involved in the production of type V collagen, important for the structure and function of connective tissues. Mutations in this gene can lead to Ehlers-Danlos syndrome, characterized by hypermobility, skin hyperextensibility, and tissue fragility.
CYBA (Cytochrome B-245 Alpha Chain): CYBA is an integral part of the NADPH oxidase complex, a key enzyme system in immune cells, especially phagocytes, for generating reactive oxygen species (ROS). These ROS are crucial for the immune system's defense mechanism against pathogens. CYBA mutations can lead to chronic granulomatous disease, a condition characterized by recurrent bacterial and fungal infections due to the inability of phagocytes to produce bactericidal ROS. Understanding CYBA's role is essential in managing and treating this immune deficiency.
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.
HGF (Hepatocyte Growth Factor): HGF is a multifunctional growth factor that acts on various cells, primarily promoting cell growth, motility, and morphogenesis. It's pivotal in liver regeneration, acting as a potent mitogen for hepatocytes. HGF is also involved in wound healing and tissue repair processes. Its role in stimulating growth and migration of cells makes it significant in cancer research, as it can influence tumor growth and metastasis. The therapeutic potential of HGF and its inhibitors is a key area of interest in regenerative medicine and oncology.
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.
IL1B (Interleukin 1 Beta): IL1B is a key cytokine in the inflammatory response, involved in a wide range of immune responses. It activates and recruits immune cells to sites of infection or injury and is involved in fever induction. Dysregulation of IL1B is associated with several chronic inflammatory and autoimmune conditions, including rheumatoid arthritis, gout, and sepsis. As a potent mediator of inflammation, IL1B is a target for various anti-inflammatory drugs.
MYLK (Myosin Light Chain Kinase): MYLK encodes an enzyme critical for smooth muscle contraction. It phosphorylates myosin light chains, facilitating the interaction between actin and myosin, and is vital in regulating vascular tone and blood pressure. MYLK is also involved in other smooth muscle functions such as gastrointestinal motility and respiratory airway resistance. Alterations in MYLK function or expression are implicated in various disorders including asthma, hypertension, and certain types of cancer.
SLC16A1 (Solute Carrier Family 16 Member 1): SLC16A1, also known as MCT1, is a transporter protein that facilitates the rapid transport of lactate and other monocarboxylates across cell membranes. It plays a key role in lactate metabolism, important in various physiological and pathological processes, including exercise physiology and cancer metabolism.
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.
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.
STEAP1B (STEAP Family Member 1B): STEAP1B, part of the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family, is involved in metalloreduction, particularly iron and copper reduction. It may play a role in cellular iron homeostasis and metabolism, which are vital for various physiological processes. The specific functions of STEAP1B in human health and disease are still being explored, with potential implications for understanding iron-related metabolic pathways.
TRIM63 (Tripartite Motif Containing 63): TRIM63, also known as MuRF1, is involved in muscle protein degradation, particularly during muscle atrophy. It targets specific muscle proteins for ubiquitination and subsequent degradation in the proteasome. TRIM63 is important in conditions of muscle wasting such as cachexia, sarcopenia, and heart failure. Understanding its role could aid in developing therapies for muscle-wasting diseases.
Endurance
ACTN3ADRB2ADRB3CHRNB3DESGABPB1GNB3GSTP1HFEKDRMYBPC3NR1H3PRDM16SLC16A1TSHRTTN
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.
ADRB2 (Adrenoceptor Beta 2): ADRB2 encodes the beta-2-adrenergic receptor, which is involved in the 'fight or flight' response. It mediates smooth muscle relaxation in the airways and blood vessels and is a target for drugs treating asthma and COPD. Genetic variations in ADRB2 can affect an individual's response to these medications.
ADRB3 (Adrenoceptor Beta 3): ADRB3 is a gene that encodes a beta-adrenergic receptor, primarily found in adipose tissue. It's involved in the regulation of lipolysis and thermogenesis, playing a significant role in energy expenditure and obesity. Variants of this gene have been studied for their potential impact on obesity and metabolic disorders.
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.
DES: DES stands for Desmin, a gene that encodes an intermediate filament protein found in muscle cells. Desmin plays a critical role in maintaining the structural integrity and mechanical resilience of muscle cells, particularly in the heart and skeletal muscles. Mutations in DES can lead to various myopathies and cardiomyopathies, reflecting its importance in muscle function and health.
GABPB1: GABPB1, or GA Binding Protein Transcription Factor Beta Subunit 1, is a gene involved in cellular transcription regulation. It encodes a subunit of a transcription factor that regulates genes implicated in cell growth and metabolism. Alterations in GABPB1 have been associated with different types of cancer, highlighting its role in cell proliferation and survival.
GNB3: GNB3 encodes a subunit of G proteins, which are vital for transmitting various extracellular signals into the cell. The GNB3 gene is particularly known for a polymorphism (C825T) associated with various physiological responses, including hypertension and obesity. This makes it a gene of interest in understanding individual differences in response to medications and susceptibility to certain diseases.
GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 plays a role in detoxification processes by conjugating reduced glutathione to a wide variety of exogenous and endogenous compounds. Polymorphisms in GSTP1 are associated with susceptibility to cancer and other diseases where detoxification is a factor.
HFE (Homeostatic Iron Regulator): The HFE gene is involved in the regulation of iron absorption and homeostasis. Mutations in HFE can lead to hereditary hemochromatosis, a condition characterized by excessive iron accumulation in the body, leading to organ damage.
KDR: KDR, also known as VEGFR2, is a key gene in angiogenesis, the formation of new blood vessels. It encodes a receptor for VEGF (vascular endothelial growth factor), crucial for blood vessel development and repair. Abnormalities in KDR have implications in cancer, where angiogenesis can support tumor growth, and in cardiovascular diseases.
MYBPC3: MYBPC3 is a gene encoding the cardiac myosin-binding protein C, which is vital in regulating heart muscle contraction. Mutations in this gene are a common cause of hypertrophic cardiomyopathy, a significant cause of sudden cardiac death, especially in young athletes. This gene's role is pivotal in cardiac muscle function and its disorders.
NR1H3: NR1H3 encodes the liver X receptor alpha, a nuclear receptor that regulates the expression of genes involved in cholesterol and lipid metabolism. It plays a critical role in maintaining cholesterol homeostasis and has been implicated in the development of atherosclerosis and other metabolic disorders.
PRDM16 (PR Domain Containing 16): PRDM16, a transcription factor, takes on the mantle of orchestrating the differentiation of brown adipocytes and igniting the flames of thermogenesis. In the quest to understand energy expenditure and metabolic health, PRDM16 emerges as a central figure, influencing processes that impact our body's energy balance. Its potential to illuminate the path to metabolic health and combat obesity has made it a prominent character in the world of metabolic research.
SLC16A1 (Solute Carrier Family 16 Member 1): SLC16A1, also known as MCT1, is a transporter protein that facilitates the rapid transport of lactate and other monocarboxylates across cell membranes. It plays a key role in lactate metabolism, important in various physiological and pathological processes, including exercise physiology and cancer metabolism.
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.
TTN (Titin): TTN is one of the largest known proteins in the human body, primarily found in muscle tissues. It plays a crucial role in muscle contraction and elasticity. TTN acts as a molecular spring, providing structural support to muscle fibers and allowing them to contract and relax efficiently. Mutations in the TTN gene have been associated with various muscle-related disorders, including muscular dystrophy and cardiomyopathy.
Aerobic Capacity (VO2 Max)
ERBINKCND3KLRK1MOXD1NUP93POLMRSU1SEC31B
ERBIN (Erb-B2 Receptor Tyrosine Kinase 2 Interacting Protein): ERBIN is a protein that interacts with the ErbB2 receptor tyrosine kinase, which is involved in cell growth and differentiation. ERBIN may play a role in modulating the signaling pathways associated with ErbB2 and other cell signaling processes. It has been studied in relation to breast cancer and other cancers where ErbB2 signaling is implicated.
KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3): KCND3 encodes a voltage-gated potassium channel protein that is primarily expressed in the heart and brain. These channels play a crucial role in regulating the electrical activity of cells, including cardiac and neuronal cells. Mutations in KCND3 have been associated with certain cardiac arrhythmias and neurodevelopmental disorders.
KLRK1 (Killer Cell Lectin Like Receptor K1): KLRK1 encodes an activating receptor found on natural killer (NK) cells and some T cells. It plays a role in immune surveillance by recognizing stress-induced ligands on target cells, leading to the elimination of infected or transformed cells. KLRK1 is important in the body's defense against viral infections and certain cancers.
MOXD1 (Monooxygenase DBH-Like 1): MOXD1 is a gene involved in oxidative reactions within cells. Its precise functions and implications in human health are still being studied, but it is thought to play a role in the metabolism of certain compounds.
NUP93 (Nucleoporin 93): NUP93 is a component of the nuclear pore complex, which regulates the transport of molecules in and out of the cell nucleus. It is essential for maintaining the integrity of the nuclear envelope and controlling gene expression. Mutations in NUP93 have been associated with developmental disorders and cancer.
POLM (DNA Polymerase Mu): POLM encodes a DNA polymerase enzyme involved in DNA repair processes, particularly in non-homologous end joining (NHEJ) repair pathways. It plays a role in maintaining genomic stability and preventing mutations. Mutations in POLM can increase the risk of genomic instability and cancer.
RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with various signaling molecules, including Ras. It is involved in regulating cell adhesion and motility. RSU1 plays a role in cell signaling pathways and may have implications in cancer progression and metastasis.
SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a component of the COPII complex, which is involved in protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus. It plays a crucial role in the secretion of proteins and the maintenance of cellular organelle integrity. Mutations in SEC31B can disrupt protein transport and lead to ER stress-related disorders.
Insomnia
ELAVL2ISL1LSAMPMPZL2OLFM4PDE2ARWDD3SPATS2LZFP64
ELAVL2 (ELAV Like RNA Binding Protein 2): ELAVL2 is an RNA-binding protein that is involved in post-transcriptional regulation of gene expression. It is a member of the ELAVL family and plays a role in mRNA stabilization and translation. ELAVL2 has been associated with neurodevelopmental disorders and neurological conditions.
ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that plays a crucial role in the development of various tissues, including the heart, motor neurons, and sensory neurons. It is involved in the differentiation and maintenance of these cell types during embryonic development and in adults. Mutations in ISL1 can lead to congenital heart defects and other developmental abnormalities.
LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule that is primarily expressed in the limbic system of the brain. It plays a role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in the context of neuropsychiatric disorders and may have implications in conditions like schizophrenia.
MPZL2 (Myelin Protein Zero-Like 2): MPZL2 is a member of the myelin protein zero (MPZ) family and is involved in the formation and maintenance of myelin in the peripheral nervous system. Myelin is a crucial component for the efficient transmission of nerve impulses. Mutations in genes related to myelin proteins can lead to peripheral neuropathies.
OLFM4 (Olfactomedin 4): OLFM4 encodes a secreted protein that is expressed in various tissues, including the gastrointestinal tract. Its functions are not fully understood, but it is associated with the regulation of stem cell proliferation and differentiation in the gut, suggesting a role in tissue regeneration and maintenance.
PDE2A (Phosphodiesterase 2A): PDE2A is an enzyme that regulates cyclic nucleotide signaling by hydrolyzing cyclic AMP (cAMP) and cyclic GMP (cGMP). It plays a role in cellular signal transduction and is involved in processes such as smooth muscle contraction and cardiac function. PDE2A inhibitors are being explored for their potential in treating heart diseases and other conditions.
RWDD3 (RWD Domain Containing 3): RWDD3 is a protein with a poorly characterized function. Its specific role in cellular processes and its relevance to human health and disease are still areas of ongoing research.
SPATS2L (Spermatogenesis Associated Serine Rich 2-Like): SPATS2L is a gene associated with spermatogenesis, the process of sperm cell development. It may play a role in male fertility, but further research is needed to fully understand its function and implications.
ZFP64 (ZFP64 Zinc Finger Protein): ZFP64 is a zinc finger protein involved in gene regulation. Zinc finger proteins can bind to specific DNA sequences and modulate gene expression. The precise targets and functions of ZFP64 in cellular processes are areas of ongoing investigation.
Sleep Movement
TOX3GLO1MEIS1
TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and is involved in transcriptional regulation. It has been studied in relation to breast cancer risk, as genetic variants in TOX3 have been associated with an increased risk of developing breast cancer.
GLO1 (Glyoxalase I): GLO1 encodes an enzyme called glyoxalase I, which is involved in the detoxification of methylglyoxal, a cytotoxic byproduct of metabolism. GLO1 plays a role in cellular protection against oxidative stress and has implications in diabetes and other diseases where glyoxalase activity is relevant.
MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that is involved in early embryonic development and organogenesis. It plays a role in limb development and hematopoiesis. MEIS1 has been associated with restless legs syndrome (RLS) and has implications in neurological and developmental disorders.
Restless Legs
C1DCCDC167DACH1DCDC2CGLO1MAP2K5MEIS1PMAIP1PKP4PTPRDSEMA6DSETBP1TOX3
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.
CCDC167 (Coiled-Coil Domain Containing 167): CCDC167 is a protein-coding gene that contains a coiled-coil domain. Coiled-coil domains are known for their role in protein-protein interactions. The specific functions and cellular processes involving CCDC167 are areas of ongoing research.
DACH1 (Dachshund Homolog 1): DACH1 is a transcription factor that is involved in the regulation of gene expression. It plays a role in various cellular processes, including development and differentiation. DACH1 has been studied in the context of cancer, where it can act as a tumor suppressor or oncogene depending on the cancer type.
DCDC2C (Doublecortin Domain-Containing Protein 2C): DCDC2C is a member of the doublecortin (DCX) family, which is involved in neuronal migration and axon guidance during brain development. DCDC2C's specific role in neuronal processes and its implications in neurodevelopmental disorders are areas of ongoing research.
GLO1 (Glyoxalase I): GLO1 encodes an enzyme called glyoxalase I, which is involved in the detoxification of methylglyoxal, a cytotoxic byproduct of metabolism. GLO1 plays a role in cellular protection against oxidative stress and has implications in diabetes and other diseases where glyoxalase activity is relevant.
MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5): MAP2K5 is a kinase enzyme that is part of the mitogen-activated protein kinase (MAPK) signaling pathway. It plays a role in cellular responses to growth factors, stress, and cytokines. MAP2K5 is involved in various cellular processes, including cell growth, differentiation, and apoptosis. Dysregulation of MAP2K5 can contribute to cancer and other diseases.
MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that is involved in early embryonic development and organogenesis. It plays a role in limb development and hematopoiesis. MEIS1 has been associated with restless legs syndrome (RLS) and has implications in neurological and developmental disorders.
PMAIP1 (Phorbol-12-Myristate-13-Acetate-Induced Protein 1): PMAIP1, also known as Noxa, is a pro-apoptotic protein that plays a role in regulating programmed cell death (apoptosis). It is involved in the intrinsic pathway of apoptosis and can promote cell death in response to various cellular stresses. PMAIP1 has implications in cancer therapy, as its activation can sensitize cancer cells to apoptosis-inducing treatments.
PKP4 (Plakophilin 4): PKP4 is a protein involved in cell-cell adhesion, particularly in desmosomes, which are specialized structures that connect adjacent cells. PKP4 plays a role in maintaining tissue integrity, especially in tissues that undergo mechanical stress. Mutations in PKP4 can lead to skin and cardiac disorders.
PTPRD (Protein Tyrosine Phosphatase Receptor Type D): PTPRD is a protein tyrosine phosphatase receptor that is involved in cell signaling and regulation. It plays a role in modulating various cellular processes by dephosphorylating specific protein substrates. PTPRD has been studied in the context of cancer, where it can act as a tumor suppressor.
SEMA6D (Semaphorin 6D): SEMA6D is a member of the semaphorin family, which is involved in axon guidance and neural development. SEMA6D plays a role in neuronal signaling and migration during development. It has implications in neurodevelopmental disorders and the formation of neural circuits.
SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a regulator of histone acetylation and chromatin remodeling. SETBP1 plays a role in gene regulation and has been associated with developmental disorders and leukemia.
TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and is involved in transcriptional regulation. It has been studied in relation to breast cancer risk, as genetic variants in TOX3 have been associated with an increased risk of developing breast cancer.
Sleep Apnea
ARRB1FTOFOXP2GPR83LAX1LRATD1NRG1PLCB1RGMARGS18SERTAD2SLC35F3TDRD15UBE3A
ARRB1 (Arrestin Beta 1): ARRB1 is a protein involved in the regulation of G protein-coupled receptor (GPCR) signaling. It plays a crucial role in the desensitization and internalization of activated GPCRs, contributing to the termination of downstream signaling. ARRB1 is essential for various physiological processes, including sensory perception, neurotransmission, and hormonal responses.
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.
FOXP2 (Forkhead Box P2): FOXP2 is a transcription factor that plays a critical role in the development of speech and language in humans. Mutations in the FOXP2 gene can lead to language deficits and speech disorders. It is considered one of the key genes involved in the evolution of human language.
GPR83 (G Protein-Coupled Receptor 83): GPR83 is a G protein-coupled receptor (GPCR) that is expressed in the brain and is involved in the regulation of appetite and energy homeostasis. It has been studied in the context of feeding behavior and metabolic disorders.
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.
LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein with a domain similar to lecithin retinol acyltransferase (LRAT), which is involved in vitamin A metabolism. The specific functions of LRATD1 and its role in vitamin A metabolism are areas of ongoing research.
NRG1 (Neuregulin 1): NRG1 is a signaling protein that is involved in neural development and synaptic plasticity. It plays a crucial role in the development of the nervous system and has been implicated in various neurological and psychiatric disorders, including schizophrenia.
PLCB1 (Phospholipase C Beta 1): PLCB1 encodes a phospholipase enzyme that is involved in signal transduction pathways. It catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to produce inositol trisphosphate (IP3) and diacylglycerol (DAG), which are important second messengers. PLCB1 is involved in a wide range of cellular processes, including cell proliferation, differentiation, and neurotransmitter release.
RGMA (Repulsive Guidance Molecule A): RGMA is a protein involved in axon guidance during neural development. It plays a role in neuronal migration and axon growth by regulating repulsive signaling pathways. RGMA is important for the formation of neural circuits and has implications in neurodevelopmental disorders.
RGS18 (Regulator of G Protein Signaling 18): RGS18 is involved in the regulation of G protein-coupled receptor signaling, specifically influencing signaling in hematopoietic cells. It plays a role in platelet function and immune responses, with its dysregulation potentially impacting blood coagulation and immune system disorders.
SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein that contains a SERTA domain, which is associated with cell cycle regulation. Beyond its role in cell cycle progression, SERTAD2 is involved in intricate cellular processes such as DNA replication, DNA repair, and chromatin remodeling. Its ability to interact with various transcription factors and co-regulators makes it a pivotal player in orchestrating gene expression.
SLC35F3 (Solute Carrier Family 35 Member F3): SLC35F3 is a member of the solute carrier (SLC) family of transporters and is involved in the transport of various molecules across cell membranes. Its specific substrate and cellular functions are areas of ongoing research.
TDRD15 (Tudor Domain Containing 15): TDRD15 is a protein that contains a Tudor domain, which is known to interact with methylated proteins and nucleic acids. The specific functions of TDRD15 and its role in cellular processes are areas of ongoing investigation.
UBE3A (Ubiquitin Protein Ligase E3A): UBE3A encodes an E3 ubiquitin ligase enzyme that plays a role in protein degradation via the ubiquitin-proteasome pathway. Mutations in UBE3A are associated with Angelman syndrome, a neurodevelopmental disorder characterized by intellectual disability and developmental delay.
Snoring
ANAPC4CEP120GATA3GPD2GRM5KDSRLEMD3LGR4NSUN3PITX1PLEKHM1POCD5PTBP2SIM1SNX11TSHZ3XKR9
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.
CEP120 (Centrosomal Protein 120): CEP120 is a centrosomal protein essential for centriole duplication and maintenance. It plays a pivotal role in organizing the microtubule cytoskeleton, which is crucial for various cellular processes, including cell division and intracellular transport. Mutations in CEP120 have been associated with ciliopathies and developmental disorders.
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.
GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme involved in glycerol metabolism and lipid biosynthesis. It catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, a critical step in lipid synthesis. GPD2's function is important for energy storage and lipid homeostasis.
GRM5 (Metabotropic Glutamate Receptor 5): GRM5 is a member of the metabotropic glutamate receptor family and plays a role in neuronal signaling. It is involved in the modulation of synaptic transmission and plasticity. Dysregulation of GRM5 has been implicated in neurological disorders such as schizophrenia.
KDSR (3-Ketodihydrosphingosine Reductase): KDSR is an enzyme involved in sphingolipid metabolism. It catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine, a precursor in the synthesis of ceramides and sphingolipids. Proper sphingolipid metabolism is crucial for cell membrane structure and signaling.
LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 encodes a protein associated with the nuclear envelope and is involved in nuclear structure and organization. Mutations in LEMD3 have been linked to the rare genetic disorder known as Buschke-Ollendorff syndrome, which affects bone and skin.
LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor involved in signaling pathways such as Wnt signaling. It plays a role in tissue development and homeostasis. LGR4 has been studied in the context of stem cell biology and organ regeneration.
NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3): NSUN3 is an RNA methyltransferase involved in the modification of mitochondrial tRNAs. It plays a role in mitochondrial protein synthesis and function. Mutations in NSUN3 have been associated with mitochondrial diseases.
PITX1 (Paired Like Homeodomain 1): PITX1 is a transcription factor crucial for the development of hindlimb structures and pituitary gland. Mutations in PITX1 can lead to developmental disorders like Liebenberg syndrome, characterized by upper limb malformations.
PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a role in the fusion of autophagosomes with lysosomes, a key step in the autophagic process. Mutations in PLEKHM1 have been associated with osteopetrosis, a rare bone disorder.
POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene associated with postoperative cognitive dysfunction, which is a condition characterized by cognitive decline following surgery. The specific mechanisms and factors contributing to this condition are areas of ongoing research.
PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is an RNA-binding protein that plays a role in RNA splicing and regulation of gene expression. It is involved in neuronal development and has been implicated in neurodevelopmental disorders.
SIM1 (Single-Minded Homolog 1): SIM1 is a transcription factor that plays a crucial role in the development of specific brain regions, including the hypothalamus. It is involved in the regulation of appetite and energy homeostasis. Mutations in SIM1 have been associated with obesity and other metabolic disorders.
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.
TSHZ3 (Teashirt Zinc Finger Homeobox 3): TSHZ3 is a transcription factor involved in embryonic development and tissue differentiation. It plays a role in the development of various organs and tissues. Mutations in TSHZ3 can lead to developmental abnormalities.
XKR9 (X-Kell Blood Group Precursor-Related Family Member 9): XKR9 is a member of the X-Kell blood group precursor-related family. Its specific functions and implications are areas of ongoing research.
Daytime Sleepiness
AP3B2ARASB3FGGYLBPPATJPTPRMSLC2A9TENT5ATMEM132B
AP3B2 (Adaptor-Related Protein Complex 3 Subunit Beta 2): AP3B2 is a subunit of the Adaptor-Related Protein Complex 3 (AP-3) involved in intracellular vesicle trafficking. It plays a crucial role in sorting cargo proteins to lysosomes and related organelles. Mutations in AP3B2 can lead to Hermansky-Pudlak syndrome, a disorder characterized by defects in pigmentation and platelet function.
AR (Androgen Receptor): AR is a nuclear receptor protein that binds to androgens (male sex hormones) and plays a central role in male sexual development and function. It is involved in regulating the development of male secondary sexual characteristics and is the target of androgen-based therapies. Mutations in the AR gene can lead to various androgen-related disorders.
ASB3 (Ankyrin Repeat and SOCS Box Protein 3): ASB3 is a protein that contains ankyrin repeats and a SOCS (Suppressor of Cytokine Signaling) box domain. It is involved in protein ubiquitination and degradation pathways. ASB3 plays a role in regulating the turnover of specific cellular proteins.
FGGY (FGGY Carbohydrate Kinase Domain Containing): FGGY is a carbohydrate kinase involved in carbohydrate metabolism. Its exact role and functions are not fully elucidated, but carbohydrate kinases are known to be important in energy metabolism and may play roles in metabolic disorders.
LBP (Lipopolysaccharide-Binding Protein): LBP is a protein involved in the immune response to bacterial infections. It plays a crucial role in binding to bacterial lipopolysaccharides (LPS) and initiating the innate immune response. LBP is an essential component of the host defense against bacterial pathogens.
PATJ (Pals1-Associated Tight Junction Protein): PATJ is a protein associated with tight junctions, which are important for maintaining the integrity of epithelial and endothelial cell layers. It plays a role in cell polarity and the formation of cell-cell junctions. PATJ is essential for tissue barrier function.
PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signaling and regulation of tyrosine phosphorylation. It plays a role in cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been implicated in cancer progression and neuronal disorders.
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.
TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. The specific functions of TENT5A and its relevance to cellular processes are areas of ongoing research.
TMEM132B (Transmembrane Protein 132B): TMEM132B is a transmembrane protein with roles in neuronal function and mental health. It is associated with anxiety-related traits and has been studied in the context of anxiety disorders and mood disorders. TMEM132B is involved in neuronal signaling and synaptic plasticity.
Caffeine-Related Sleep Problems
ADGRL2ADRA2AALDH7A1FCHSD2GBP3KCTD15LRTM1MDFIC2MTNR1BNEDD4LPRIMA1SLC7A1TMEM51UPB1
ADGRL2 (Adhesion G Protein-Coupled Receptor L2): ADGRL2, also known as latrophilin 2, is part of the adhesion-GPCR family, involved in cell adhesion and communication. It plays a role in the development of the nervous system and has been implicated in certain neurological disorders. ADGRL2's unique mechanism combines G protein-coupled receptor signaling with cell adhesion, making it a point of interest in neurobiological research.
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.
ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1): ALDH7A1 is involved in the metabolism of aldehydes and is essential for the detoxification of pyridoxal-5'-phosphate, a form of vitamin B6. Deficiency in ALDH7A1 leads to pyridoxine-dependent epilepsy, a condition where seizures are caused by an abnormality in lysine metabolism and are responsive to vitamin B6 treatment.
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.
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.
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.
LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is implicated in neural development and synaptic processes. It's involved in neuronal communication and has potential links to neurodegenerative diseases, making it a significant gene in the study of brain health and disorders.
MDFIC2: MDFIC2, or MyoD Family Inhibitor Domain Containing 2, is a gene not extensively studied but believed to be involved in muscle development and differentiation. It may play a role in the regulation of myogenic factors, which are critical for muscle cell growth and repair. Understanding MDFIC2's function could provide insights into muscle development disorders or muscle regeneration processes.
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.
NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase): NEDD4L is crucial in regulating ion transport and cellular signaling pathways. It's known for its role in hypertension and cardiovascular diseases, as it affects sodium and water balance in the body. This gene's function in homeostasis makes it a key player in understanding various health conditions.
PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is involved in anchoring acetylcholinesterase to neuronal membranes, playing a key role in the breakdown of the neurotransmitter acetylcholine. It's significant in the regulation of cholinergic neurotransmission and is of interest in studies of neurodegenerative diseases like Alzheimer's.
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.
TMEM51 (Transmembrane Protein 51): TMEM51 is involved in cellular processes related to membrane organization and trafficking. Its specific functions are not well-defined, but it's believed to play a role in intracellular transport and cell signaling pathways.
UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the catabolism of pyrimidines. Deficiencies in UPB1 can lead to beta-ureidopropionase deficiency, a rare disorder affecting the breakdown of nucleotides, leading to neurological symptoms and developmental delay.
Who is the DNA Fatigue Test Suitable For?
The DNA Fatigue Test is designed for anyone seeking to understand the roots of their fatigue and low energy levels. It's especially valuable for individuals experiencing chronic fatigue, anemia, sleep disturbances, mood swings, and other energy-related issues.
How Does It Work?
- Order the Test: Order your GetTested DNA Fatigue 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 analyze 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 health. In addition, the report includes personalized recommendations and strategies to optimize 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 anonymized, 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 Fatigue test carried out?
Our DNA Fatigue 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 Fatigue Test
Reviews
1 reviews
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This test looks interesting. Can I ask exactly what you are testing here. Is it simply the DNA sequences associated with the genes, and therefore flagging up non functional mutated versions or does your testing include functional expressing studies from RNA to protein and activity assays?Hi Philip! Sorry to keep you waiting. These comments sometimes get lost in all the spam comments. If you email us at hello@gettested.se, I can send you a sample report for you to see. To answer your question, the test will test for your genotype involving different genes that are associated with fatigue and give you a collective risk score from a population point of view.
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