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The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.

<p>The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.</p>

DNA Immunity & Inflammation Test

Do 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.

<p>Do 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.</p>

DNA Gut Health Test

DNA Fatigue Test

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines, including CXCL5, and is primarily expressed on neutrophils. It plays a key role in mediating chemotactic responses and activating neutrophils during the inflammatory response. CXCR2 is involved in various pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it a target for therapeutic intervention in these disorders....

CXCR2

ACE (Angiotensin-Converting Enzyme): ACE is a crucial enzyme in the Renin-Angiotensin System (RAS), primarily involved in blood pressure regulation and fluid balance. It catalyzes the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, thereby playing a pivotal role in controlling vascular tone and electrolyte balance. Angiotensin II's effects include constriction of blood vessels, stimulation of aldosterone secretion, and elevation of blood pressure. Beyond its vasoactive functions, ACE has implications in various physiological and pathological processes, including heart function, kidney disease, and inflammatory responses. Dysregulation of ACE activity is associated with hypertension, heart failure, and renal diseases, making it...

ENOSF1 (Enolase Superfamily Member 1): ENOSF1, enolase superfamily member 1, is implicated in the cellular response to vitamin B2 (riboflavin) availability and is associated with the metabolism of cancer cells, particularly in how they adapt to varying nutrient conditions. Alterations in ENOSF1 expression have been studied in the context of tumor metabolism, suggesting a potential role in cancer progression and the development of targeted therapies that exploit metabolic vulnerabilities of cancer cells....

ENOSF1

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

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

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

ANKH (Ankylosis Homolog): ANKH is associated with a genetic disorder called familial chondrocalcinosis, which leads to the deposition of calcium crystals in joints, resulting in painful arthritis. ANKH encodes a protein that is involved in the regulation of extracellular inorganic pyrophosphate levels, which can influence joint health and mineralization of cartilage and bone tissues....




ANKH

ENPEP (Glutamyl Aminopeptidase): ENPEP encodes an enzyme known as glutamyl aminopeptidase, which plays a crucial role in blood pressure regulation and fluid balance in the body. This enzyme is involved in the angiotensin pathway, a key regulator of blood pressure, by processing angiotensin II, a potent vasoconstrictor. Alterations or dysfunctions in ENPEP have implications in hypertension and cardiovascular diseases, making it a target for research in these areas....

ENPEP

ANKRD30A (Ankyrin Repeat Domain 30A): ANKRD30A encodes a protein with ankyrin repeat domains, which are known for their role in protein-protein interactions. It's particularly noted for its expression in breast tissue and has been implicated in breast cancer biology, possibly serving as a biomarker or therapeutic target in breast cancer research and treatment....

ANKRD30A

ENPP4 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 4): ENPP4 is a member of the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP) family of enzymes, which play important roles in purinergic signaling and phosphate homeostasis. ENPP4 specifically functions as both a phosphodiesterase, catalyzing the hydrolysis of phosphodiester bonds, and a pyrophosphatase, cleaving pyrophosphate bonds. It is predominantly expressed in tissues such as the kidney, liver, and brain, where it participates in various physiological processes including bone mineralization, lipid metabolism, and regulation of extracellular nucleotide levels. ENPP4 has also been implicated in modulating immune responses and inflammation through its interaction with purinergic receptors. Dysregulation of ENPP4 activity has been associated...

ENPP4

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

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

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

EPHA5 (EPH Receptor A5): EPHA5 is part of the ephrin receptor subfamily of protein-tyrosine kinases, which play critical roles in developmental processes, particularly in the nervous system. EPHA5 and its ligands are involved in mediating developmental events, such as neuronal migration and axon guidance. Dysregulation of EPHA5 signaling has been implicated in neurodevelopmental disorders and cancer. Studies on EPHA5 seek to understand its role in neural development and explore its potential as a therapeutic target in neurological diseases and cancer....

EPHA5

ANO3 (Anoctamin 3): ANO3 encodes a calcium-activated chloride channel, which is significant in smooth muscle function and neurological processes. Mutations in ANO3 are associated with movement disorders, particularly dystonia, a condition characterized by involuntary muscle contractions and spasms, indicating its role in neuromuscular signaling and function....

ANO3

AOC1 (Amine Oxidase, Copper Containing 1): AOC1, also known as diamine oxidase, is involved in the metabolism of histamine and polyamines. It plays a role in the regulation of histamine levels and is important in allergic responses, gastrointestinal function, and immune regulation....




AOC1

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit): AP2A2 is part of the AP-2 adaptor complex, crucial for clathrin-mediated endocytosis. This process is vital for cellular internalization of receptors and other proteins, impacting cell signaling and nutrient uptake. Dysregulation of AP2A2 can affect neuronal development and synaptic function, with potential implications in neurological disorders....

AP2A2

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....

AP3B2

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein): APBB1IP, also known as RIAM (Rap1-GTP-interacting adaptor molecule), plays a critical role in integrin activation, a key process in cell adhesion and migration. By linking Rap1 GTPases to the actin cytoskeleton, APBB1IP facilitates cell adhesion to the extracellular matrix, impacting immune cell function, tumor metastasis, and wound healing. Its role in these processes makes it a subject of interest for research into immune response regulation and cancer....

APBB1IP

EPHB2 (Ephrin Type-B Receptor 2): EPHB2, a member of the Eph receptor tyrosine kinase family, plays a pivotal role in mediating cell-cell communication and tissue organization. Through its interactions with ephrin ligands, EPHB2 regulates diverse processes such as cell migration, adhesion, and axon guidance during development and adulthood. This receptor is integral to the maintenance of tissue architecture and function, particularly in the nervous system and epithelial tissues. Dysregulation of EPHB2 signaling has been implicated in various pathological conditions including cancer progression, neurodevelopmental disorders, and tissue malformation. The intricate balance of EPHB2 activity underscores its significance in orchestrating cellular dynamics...

EPHB2

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

EPM2A (Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin)): EPM2A encodes laforin, a phosphatase involved in glycogen metabolism. Mutations in EPM2A cause Lafora disease, a rare, fatal form of progressive myoclonus epilepsy. Laforin's role in dephosphorylating glycogen is crucial for preventing the formation of Lafora bodies, insoluble glycogen inclusions that are neurotoxic. The loss of EPM2A function underscores its critical role in neuronal health and highlights the impact of metabolic regulation on neurodegenerative diseases....



EPM2A

APOB (Apolipoprotein B): Apolipoprotein B is a principal component of low-density lipoproteins (LDL), which are carriers of cholesterol in the blood. APOB exists in two main isoforms, APOB-48 and APOB-100, with the latter being integral to the structure of LDL particles. APOB-100 serves as a ligand for LDL receptors, facilitating the uptake of LDL particles by cells and thus playing a crucial role in lipid metabolism and transport. Elevated levels of APOB-containing lipoproteins are strongly associated with an increased risk of atherosclerosis and cardiovascular disease, as they contribute to the formation of plaques that can narrow or block blood vessels....

APOB

EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3): EPS8L3 is a gene associated with the epidermal growth factor receptor (EGFR) pathway, a fundamental signaling cascade in cellular physiology. Its involvement in cell signaling pathways implies roles in cellular responses to external stimuli and possibly cancer development. A deeper understanding of EPS8L3's functions could provide valuable insights into disease mechanisms and therapeutic strategies....

EPS8L3

APOBEC1 (Apolipoprotein B mRNA Editing Enzyme, Catalytic Polypeptide 1): APOBEC1 is an RNA-editing enzyme primarily involved in the post-transcriptional modification of apolipoprotein B (apoB) mRNA, leading to the production of a shorter apoB protein form in the intestine. This modification is crucial for lipid metabolism and plays a role in the assembly and secretion of lipoproteins. Dysregulation of APOBEC1 can affect cholesterol homeostasis and is of interest in studies related to cardiovascular diseases and lipid disorders....




APOBEC1

APOC1 (Apolipoprotein C-I): APOC1 is a component of the apolipoprotein family, playing a crucial role in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), contributing to the regulation of triglyceride-rich lipoprotein metabolism. APOC1 acts as an inhibitor of lipoprotein lipase and hepatic lipase, enzymes essential for the hydrolysis of triglycerides, thereby influencing lipid levels in the plasma. Its involvement in lipid metabolism suggests a significant role in cardiovascular health, where dysregulation can lead to conditions such as hyperlipidemia, atherosclerosis, and consequently, cardiovascular disease. Beyond its metabolic functions, APOC1 has been implicated in...



APOC1

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4): ERBB4, a member of the epidermal growth factor receptor (EGFR) family, serves as a crucial regulator in various cellular processes. This transmembrane receptor tyrosine kinase is intricately involved in signaling pathways governing cell proliferation, differentiation, and survival. Its role extends beyond cellular processes to influence organ development, synaptic plasticity, and cardiac function, among others. ERBB4's activation triggers downstream cascades that modulate gene expression and cellular behavior, contributing significantly to tissue homeostasis and development. Moreover, its dysregulation has been implicated in diverse pathologies, including cancer progression, neurological disorders, and cardiac abnormalities. The multifaceted functions of ERBB4...

ERBB4

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

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....

ERBIN

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....

APOH (Apolipoprotein H): APOH, also known as beta-2-glycoprotein I, is a multifunctional plasma protein crucial for maintaining lipid metabolism and hemostasis. It serves as a key component of the antiphospholipid antibody syndrome (APS), playing a regulatory role in the coagulation cascade and preventing thrombosis. APOH also interacts with various molecules including lipoproteins, phospholipids, and coagulation factors, contributing to the modulation of immune responses and the clearance of apoptotic cells. Beyond its role in hemostasis, APOH exhibits anti-inflammatory properties, participating in the regulation of endothelial function and vascular health. Dysregulation of APOH has been implicated in various disorders, including thrombotic diseases,...

APOH

AQP10 (Aquaporin 10): AQP10 is a member of the aquaporin family of water channels, involved in the transport of water and small solutes across cell membranes. It is primarily expressed in the intestine and plays a role in water absorption and gastrointestinal function. Although the specific physiological functions of AQP10 are still being elucidated, its expression in the gut suggests a role in maintaining water and electrolyte balance, with potential implications for gastrointestinal disorders....




AQP10

ERI1 (Exoribonuclease 1): ERI1 is essential for RNA interference and the regulation of small RNA stability, playing a critical role in RNA-mediated gene silencing processes. It helps in the degradation of RNA duplexes and the resolution of RNA-induced silencing complexes (RISCs), impacting gene expression and cellular defense mechanisms against viruses. Research on ERI1 focuses on understanding its role in post-transcriptional gene regulation and its potential implications for antiviral responses and cancer....

ERI1

ARHGAP20 (Rho GTPase Activating Protein 20): ARHGAP20 is involved in the regulation of Rho GTPases, key mediators of cytoskeletal dynamics, cell morphology, migration, and proliferation. By promoting the inactivation of Rho GTPases, ARHGAP20 plays a crucial role in controlling cell movement and maintaining cellular architecture. Dysregulation of Rho GTPase signaling by ARHGAP20 can contribute to cancer progression, making it a candidate for investigating the molecular mechanisms of metastasis and for developing anti-metastatic therapies....

ARHGAP20

ERMP1 (Endoplasmic Reticulum Metallo Protease 1): ERMP1, or endoplasmic reticulum metallo protease 1, is involved in the processing and maturation of proteins within the endoplasmic reticulum (ER). It contributes to the maintenance of protein homeostasis by degrading misfolded or unassembled proteins, thereby preventing their accumulation and the potential induction of ER stress. ERMP1 plays a critical role in various cellular processes, including immune response and the regulation of ER-associated degradation (ERAD) pathway. Dysregulation of ERMP1 function can lead to various diseases, including neurodegenerative disorders and cancer, by affecting cellular stress responses and protein quality control mechanisms....

ERMP1

ESD (Esterase D): ESD is an enzyme involved in the hydrolysis of esters and is considered a marker for certain types of cancer, including retinoblastoma. Its role in cellular metabolism and detoxification processes makes it relevant in the study of metabolic pathways and in the diagnosis and monitoring of cancer....

ARHGAP21 (Rho GTPase Activating Protein 21): This gene encodes a protein involved in the regulation of Rho GTPases, a family of proteins that play a key role in regulating the actin cytoskeleton, cell shape, and motility. ARHGAP21 is implicated in various cellular processes, including intracellular trafficking and cell migration, and has potential links to neurological disorders....

ARHGAP21

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

ARHGAP9 (Rho GTPase Activating Protein 9): ARHGAP9 is a GTPase-activating protein that regulates the activity of Rho family GTPases, key regulators of the actin cytoskeleton, and cellular morphology. By modulating the activity of Rho GTPases, ARHGAP9 plays a role in cell migration, adhesion, and proliferation. It has been studied in the context of cancer, where its role in cell movement and invasion can influence tumor metastasis and progression....

ARHGAP9

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

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

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

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and acts as a transcription factor. It plays a pivotal role in mediating the effects of estrogen, a steroid hormone, in various tissues throughout the body. One of the primary functions of ESR1 is its role in regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 resides in the cytoplasm in an inactive state, bound to heat shock proteins. Upon binding of estrogen, ESR1 undergoes a conformational change, dissociates from the heat shock proteins, and translocates to the...

ESR1

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

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

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene encoding a transcription factor from the ETS family. Transcription factors like ETS2 regulate the expression of target genes by binding to specific DNA sequences. ETS2 has been implicated in various cellular processes, including cell proliferation, differentiation, and development. Dysregulation of ETS2 can be associated with cancer and developmental disorders....

ETS2

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

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...

EXD3

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....

EXOC5

EXTL2 (Exostosin-Like Glycosyltransferase 2): EXTL2 is a gene encoding a glycosyltransferase involved in the biosynthesis of heparan sulfate, a critical component of the extracellular matrix. Heparan sulfate is known to interact with various growth factors and signaling molecules, affecting processes like cell proliferation, adhesion, and differentiation. EXTL2's role in heparan sulfate synthesis highlights its significance in development and tissue homeostasis....

EXTL2

FAAH (Fatty Acid Amide Hydrolase): FAAH is an enzyme that breaks down endocannabinoids, which are involved in pain sensation, mood, and appetite. FAAH inhibitors are explored for therapeutic potential in pain, anxiety, and certain neurological disorders due to their role in modulating endocannabinoid signaling....

FAAH

FAAP24 (Fanconi Anemia-Associated Protein 24): FAAP24 emerges as a pivotal component associated with Fanconi anemia, a rare genetic condition characterized by bone marrow failure and heightened susceptibility to cancer. Within the intricate realm of DNA repair mechanisms, FAAP24 takes on a crucial role, actively participating in processes aimed at preserving genomic stability. Its contributions extend to the intricate choreography of orchestrating DNA repair, marking it as a significant player in safeguarding the integrity of our genetic material....

FAAP24

FABP2 (Fatty Acid Binding Protein 2): FABP2 is involved in the intracellular transport of long-chain fatty acids and their acyl-CoA derivatives. It plays a crucial role in fatty acid absorption and metabolism in the intestine. Variations in FABP2 can affect lipid metabolism and are associated with metabolic disorders, including diabetes and obesity....

FABP2

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

ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B): ARPC1B is a gene that encodes a subunit of the actin-related protein 2/3 (ARP2/3) complex, which plays a crucial role in actin cytoskeleton organization and cell motility. Mutations in ARPC1B can lead to a rare immunodeficiency disorder known as ARPC1B deficiency, which affects immune cell function and host defense against infections....




ARPC1B

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....

ARRB1

FAM160A2 (Family with Sequence Similarity 160 Member A2): FAM160A2 is a gene with currently limited known information. Further research is needed to fully understand its function and significance....

FAM160A2

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is implicated in the regulation of cell signaling pathways and has been studied in the context of tumor suppression. It is involved in the regulation of receptor internalization and may play a role in cellular responses to external stimuli, including in metabolic regulation....

ARRDC3

FAM171A1 (Family With Sequence Similarity 171 Member A1): FAM171A1 is a protein-coding gene with currently limited characterization, but it is believed to be involved in cellular processes related to protein interaction and signal transduction. Its specific role in human physiology and pathology is still being explored....

FAM171A1

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....




ARSA

ARSB (Arylsulfatase B): ARSB is an enzyme involved in the degradation of glycosaminoglycans like dermatan sulfate. Mutations in ARSB cause Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), characterized by dysostosis multiplex and systemic involvement due to the accumulation of dermatan sulfate....

ARSB

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

ASB13, also known as Ankyrin repeat and SOCS box protein 13, is a member of the ASB family of proteins, which are characterized by the presence of ankyrin repeat domains and a SOCS box domain. These proteins are involved in the regulation of protein degradation and signal transduction pathways within cells. One of the primary functions of ASB13 is its role as an E3 ubiquitin ligase, facilitating the ubiquitination and subsequent degradation of specific protein targets. The SOCS box domain of ASB13 interacts with components of the ubiquitin-proteasome system, including E2 ubiquitin-conjugating enzymes and Cullin-RING ligase (CRL) complexes, allowing ASB13 to...

ASB13

ASB2 (Ankyrin Repeat and SOCS Box Containing 2): ASB2, standing for ankyrin repeat and SOCS box containing 2, is part of the ASB family that participates in the ubiquitin-proteasome pathway for protein degradation. It acts by targeting specific proteins for ubiquitination and subsequent degradation, playing a critical role in controlling protein levels within cells. ASB2 is especially involved in the regulation of actin cytoskeleton dynamics and muscle function. Its activity has been linked to the regulation of hematopoietic stem cell differentiation and may influence the development of certain leukemias and muscular disorders. Dysregulation of ASB2 can disrupt normal cellular homeostasis,...

ASB2

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is implicated in the regulation of cell proliferation and may play a role in cellular development and differentiation. Although less studied, its function appears to be crucial for normal cellular functions and possibly for the maintenance of cellular integrity. Ongoing research aims to clarify its exact roles and how its dysregulation may contribute to disease processes, including cancer and developmental disorders....

FAM53A

FAM9A, or Family with Sequence Similarity 9 Member A, is a protein-coding gene that belongs to a family of genes with sequence similarity. While specific functions of FAM9A are still under investigation and not extensively characterized, it is known to be expressed in various tissues, including the brain, testis, and ovaries, suggesting potential roles in cellular processes in these organs. The designation "FAM" typically denotes a gene family whose members share sequence similarity but may have diverse functions. Often, genes within the FAM family are involved in various cellular processes, such as cell signaling, transcriptional regulation, or protein-protein interactions. Although the exact...

FAM9A

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....




ASB3

FANCC (Fanconi Anemia Complementation Group C): FANCC is part of the Fanconi anemia (FA) pathway, essential for DNA repair and the maintenance of genomic stability. Mutations in FANCC can cause Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and an increased risk of cancer....

FANCC

MICB (MHC Class I Polypeptide-Related Sequence B): MICB plays a significant role in the immune system, acting as a stress-induced ligand for the NKG2D receptor found on natural killer cells and certain T cells. It's involved in the immune surveillance against infected or transformed cells. Elevated expression of MICB can be triggered by cellular stress, such as viral infection or tumorigenesis, signaling immune cells to target and destroy the affected cells....




ASCC3

ASIP (Agouti Signaling Protein): ASIP regulates melanin synthesis in the skin, influencing pigmentation and the distribution of hair color. By antagonizing melanocortin receptors, ASIP plays a critical role in determining the type of melanin produced in the hair and skin. Variations in ASIP expression are linked to differences in pigmentation patterns, susceptibility to skin cancer, and the regulation of metabolic processes, underlining its role in pigmentation and potential implications for metabolic health....




ASIP

ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. The specific function of ASPRV1 is still being investigated, but it may play a role in proteolytic processes within cells. Further research is needed to fully understand its function and implications....

ASPRV1

ASTN2 (Astrotactin 2): ASTN2 is a neural adhesion protein involved in neuronal migration in the developing brain. It's crucial for the proper formation of neural networks and brain structure. Genetic variations in ASTN2 have been linked to neurological disorders, including autism spectrum disorders and attention deficit hyperactivity disorder (ADHD)....

ASTN2

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

ATG12 (Autophagy Related 12): ATG12 is a key gene involved in the process of autophagy, a cellular mechanism for degrading and recycling cellular components. This gene plays a crucial role in cellular maintenance and survival, particularly under stress conditions. It's involved in the formation of a conjugate with ATG5, which is essential for the autophagosome formation, a pivotal step in the autophagy pathway. Dysregulation of ATG12 has been linked to various diseases, including cancer and neurodegenerative disorders....




ATG12

ATP10B (ATPase Phospholipid Transporting 10B): ATP10B is a member of the P-type ATPases, involved in transporting lipids across cellular membranes. Its specific role is less understood, but it may be significant in lipid metabolism and cellular homeostasis, with potential implications for neurodegenerative diseases like Parkinson’s....




ATP10B

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

ATP1B3 (ATPase Na+/K+ Transporting Subunit Beta 3): ATP1B3 is part of the Na+/K+ ATPase pump, which is essential for maintaining cellular ion gradients, a critical process for cell volume regulation and electrical excitability. This subunit helps regulate the pump's activity and specificity, contributing to its role in muscle function, nerve transmission, and kidney filtration. Dysregulation or mutations in ATP1B3 have potential implications for cardiovascular diseases and neurological disorders....

ATP1B3

ATP2B2 (ATPase Plasma Membrane Ca2+ Transporting 2): ATP2B2 encodes a calcium pump involved in the regulation of intracellular calcium levels, crucial for a wide range of cellular processes, including signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been linked to deafness and vestibular disorders, underscoring its role in hearing and balance through the regulation of calcium in sensory hair cells....

ATP2B2

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....

ATP2B4

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

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

ATP8B1 (ATPase Phospholipid Transporting 8B1): ATP8B1 is a gene that encodes a phospholipid transporter located in the liver cell membrane. It plays a crucial role in maintaining the lipid composition of cell membranes and bile. Mutations in ATP8B1 can result in progressive familial intrahepatic cholestasis (PFIC), a group of liver disorders....

ATP8B1

ATP8B2 (ATPase Phospholipid Transporting 8B2): ATP8B2 is a gene associated with an ATPase enzyme that transports phospholipids across cell membranes. Phospholipid transport is critical for maintaining membrane integrity and cellular homeostasis. ATP8B2 likely participates in the regulation of lipid composition in cell membranes....




ATP8B2

ATP9A (ATPase Phospholipid Transporting 9A): ATP9A is involved in the transport of phospholipids across cellular membranes, playing a key role in membrane trafficking and phospholipid homeostasis. It is important for cell growth, division, and differentiation. Dysregulation of ATP9A has been implicated in neurological disorders, highlighting its importance in maintaining cellular membrane composition and function....

ATP9A

ATXN1 (Ataxin 1): ATXN1 encodes a protein called ataxin-1, which is involved in neuronal function. Mutations in this gene, particularly expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder characterized by loss of motor coordination and balance. Research into ATXN1 is crucial for understanding and developing treatments for this and similar neurodegenerative diseases....

ATXN1

AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2): AUTS2 is implicated in neurodevelopment and is associated with autism spectrum disorder and intellectual disability. It plays a role in gene regulation and brain development, with mutations affecting neural development and function....

AUTS2

AXIN2 (Axin 2): AXIN2 is a crucial component of the Wnt signaling pathway, which is involved in cell proliferation, differentiation, and embryonic development. AXIN2 acts as a negative regulator of Wnt signaling, and mutations in this gene are associated with various cancers and developmental disorders, including colorectal cancer and tooth agenesis....

AXIN2

AZIN2 (Antizyme Inhibitor 2): AZIN2 regulates the activity of ornithine decarboxylase, a key enzyme in polyamine biosynthesis which is important for cell growth and differentiation. It acts by inhibiting antizyme, which usually downregulates ornithine decarboxylase. Abnormalities in polyamine metabolism, potentially influenced by AZIN2, have been associated with cancer, as polyamines are critical for cell proliferation....

AZIN2

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

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

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

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

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

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

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....



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...



VMP1

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