DNA

AADAT, also known as aminoadipate aminotransferase, is a vital enzyme involved in the catabolism of lysine, an essential amino acid. Positioned primarily within the mitochondria of cells, AADAT plays a crucial role in the alpha-aminoadipic semialdehyde (alpha-AASA) pathway, which is responsible for the degradation of lysine. One of the key functions of AADAT is its involvement in the conversion of alpha-aminoadipate semialdehyde (alpha-AASA) to alpha-aminoadipate (AAA), a crucial step in lysine degradation. This enzymatic reaction is essential for the disposal of excess lysine and the generation of intermediates that can be utilized in other metabolic pathways. Moreover, AADAT participates in the synthesis...

AAK1 (AP2-Associated Kinase 1): AAK1 encodes a protein kinase involved in clathrin-mediated endocytosis, a process by which cells internalize molecules from their external environment. AAK1 plays a role in regulating the trafficking and internalization of cell surface receptors and is essential for various cellular functions....

ABCA6 (ATP-Binding Cassette Subfamily A Member 6): ABCA6 is a member of the ATP-binding cassette transporter family and is involved in cellular lipid transport. It plays a role in transporting lipids across cellular membranes and may be associated with lipid metabolism and homeostasis. ...

ABCC5 (ATP-Binding Cassette Subfamily C Member 5): ABCC5 encodes a transporter protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. This protein is involved in the efflux of various substrates from cells and is often associated with drug resistance in cancer. Understanding the role of ABCC5 is crucial for optimizing chemotherapy regimens and developing targeted therapies....

ABCG2 (ATP-Binding Cassette Subfamily G Member 2): ABCG2 encodes a protein involved in cellular transport processes. It is a member of the ATP-binding cassette (ABC) transporter family and is responsible for the efflux of various molecules, including drugs and toxins, out of cells. ABCG2 plays a role in drug resistance and the protection of tissues from harmful substances....

ABLIM1 (Actin Binding LIM Protein 1): ABLIM1 encodes a protein that plays a crucial role in the organization of actin cytoskeleton, which is essential for various cellular functions like movement and division. It's particularly important in muscle development and neural processes. Dysfunctions in ABLIM1 have been linked to muscular and neurological disorders....

ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development....

ACOXL (Acyl-CoA Oxidase-Like): ACOXL is closely related to the acyl-CoA oxidase family, which is involved in the β-oxidation of very long-chain fatty acids in peroxisomes. Although the exact metabolic function of ACOXL is less understood compared to other family members, it is believed to play a role in lipid metabolism and the regulation of fatty acid degradation. Understanding ACOXL's function could have implications for metabolic diseases and disorders related to lipid storage and oxidation....

ACP1 (Acid Phosphatase 1, Soluble): ACP1 encodes an enzyme that functions in various cellular processes, including signal transduction and energy metabolism. It has several isoforms with different roles, potentially influencing immune responses and cellular signaling pathways. Variants of ACP1 have been linked to susceptibility to certain autoimmune diseases and metabolic conditions....

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....

ACVR1 (Activin Receptor Type 1): ACVR1 encodes a receptor for activin, a growth and differentiation factor. It is involved in signaling pathways that regulate cell proliferation and differentiation. Mutations in ACVR1 have been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the abnormal formation of bone in soft tissues....

ADAM15 (A Disintegrin and Metalloproteinase 15): ADAM15 is a member of the ADAM protein family, which are involved in cell adhesion, migration, and proteolysis of extracellular matrix proteins. ADAM15 may play a role in cell signaling and tissue remodeling....

ADAM17 (A Disintegrin And Metalloproteinase 17): ADAM17, also known as TACE (TNF-alpha converting enzyme), is involved in the shedding of membrane-bound proteins, including growth factors, cytokines, and receptors. It plays a key role in cell signaling, inflammation, and cancer. Dysregulation of ADAM17 activity is implicated in various diseases, including arthritis, cancer, and cardiovascular disorders....

ADAM32 (ADAM Metallopeptidase Domain 32): ADAM32 is part of the ADAM (A Disintegrin And Metalloproteinase) family, which is known for roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes are involved in various biological processes, including cell signaling, fertilization, and cell migration. ADAM32's specific functions are still being explored, but like other family members, it may play a role in tissue remodeling, cell-cell interactions, and possibly in reproductive processes....

ADAMTS10 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 10): ADAMTS10 is a member of the ADAMTS protein family, which is involved in the processing and remodeling of extracellular matrix components. ADAMTS10 plays a role in tissue development and repair, particularly in cartilage and bone. Mutations in ADAMTS10 can lead to connective tissue disorders and skeletal abnormalities....

ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18): ADAMTS18 encodes an enzyme involved in the processing of extracellular matrix components. Mutations in this gene have been linked to eye, skin, and skeletal abnormalities, reflecting its role in tissue development and maintenance....

ADARB1 (Adenosine Deaminase RNA-Specific B1): ADARB1 is involved in RNA editing, a post-transcriptional modification process that can alter the sequence of RNA molecules. It plays a role in modifying the properties of RNA, including its stability and function. ADARB1 has implications in neurological disorders and the regulation of gene expression....

ADCY3 (Adenylate Cyclase 3): ADCY3 encodes an enzyme called adenylate cyclase 3, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY3 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADGRB1 (Adhesion G Protein-Coupled Receptor B1): ADGRB1, also known as BAI1, is a member of the adhesion G protein-coupled receptor family. It's involved in various cellular processes, including phagocytosis of apoptotic cells and synaptic development in the brain. Mutations in ADGRB1 have been linked to certain neurological disorders....

ADGRG6 (Adhesion G Protein-Coupled Receptor G6): ADGRG6, also known as GPR126, is a receptor involved in cell adhesion and signal transduction. It plays a critical role in developmental processes such as myelination of peripheral nerves and cardiac development. Mutations in ADGRG6 have been associated with developmental abnormalities, particularly in the nervous and cardiovascular systems....

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....

ADGRL3 (Adhesion G Protein-Coupled Receptor L3): ADGRL3 is a gene encoding a protein that belongs to the adhesion G protein-coupled receptor family, which is known for mediating cell-cell interactions and playing a crucial role in the development and function of the nervous system. It is particularly important in brain development and neuronal signaling. Recent research has linked variations in ADGRL3 to neurological disorders, including attention deficit hyperactivity disorder (ADHD), suggesting its significant influence on neural connectivity and brain function....

ADGRL4 (Adhesion G Protein-Coupled Receptor L4, also known as ELTD1): ADGRL4 is implicated in angiogenesis and vascular development. It has been identified as a potential marker and therapeutic target in cancer due to its role in tumor vasculature. By regulating endothelial cell function and contributing to the formation of new blood vessels, ADGRL4 plays a crucial role in both physiological and pathological processes, including wound healing and cancer progression. Research aims to leverage ADGRL4's function for anti-angiogenic therapies in cancer treatment....

ADH4 (Alcohol Dehydrogenase 4): ADH4 is part of the alcohol dehydrogenase family and is involved in the metabolism of various alcohols, including ethanol. It also plays a role in the metabolism of retinol (vitamin A) to retinaldehyde, which is significant for vision and overall retinoid metabolism....

AGBL1 (ATP/GTP-binding protein-like 1): AGBL1, belonging to the ATP/GTP-binding protein-like family, plays a pivotal role in cellular processes involving nucleotide binding and hydrolysis. This protein is intricately involved in various cellular functions, including cytoskeletal organization, vesicular trafficking, and signal transduction pathways, by modulating the dynamics of nucleotide metabolism. AGBL1's activity is crucial for maintaining cellular homeostasis and orchestrating dynamic cellular responses to extracellular cues. Dysregulation of AGBL1 has been implicated in numerous pathological conditions, including neurodegenerative diseases, cancer progression, and immune disorders, underscoring its significance in cellular physiology and disease pathogenesis. Understanding the precise mechanisms governing AGBL1 function holds promise...

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2): AGPAT2 is a crucial enzyme involved in lipid metabolism, particularly in the biosynthesis of phospholipids and triglycerides. It catalyzes the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a key step in the Kennedy pathway for triacylglycerol synthesis. AGPAT2 plays a vital role in various cellular processes such as adipocyte differentiation, lipid storage, and membrane biogenesis. Dysregulation of AGPAT2 activity has been implicated in metabolic disorders such as obesity, insulin resistance, and dyslipidemia. Additionally, mutations in the AGPAT2 gene are associated with congenital generalized lipodystrophy type 1 (CGL1), a rare genetic disorder characterized by the...

plays a crucial role in blood pressure regulation and fluid balance. Mutations in the AGT gene can influence the risk of hypertension and cardiovascular diseases. Understanding AGT's function is key in managing these conditions....

AHI1 (Abelson Helper Integration Site 1): AHI1 is involved in ciliogenesis and cellular signaling. Mutations in AHI1 are linked to Joubert syndrome, a rare genetic disorder characterized by developmental delays, cerebellar abnormalities, and other neurological symptoms. It plays a role in brain development and function....

ALCAM (Activated Leukocyte Cell Adhesion Molecule): ALCAM is a cell adhesion molecule involved in various biological processes including neuronal development, immune responses, and tumor progression. It facilitates cell-cell interactions and is important for the migration and targeting of cells. Dysregulation of ALCAM has been implicated in cancer metastasis and autoimmune diseases....

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....

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....

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....

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....

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....

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....

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....

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....

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....

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....

CES1 (Carboxylesterase 1): CES1 is an enzyme involved in the metabolism of various drugs, including clopidogrel, methylphenidate, and certain antiviral and chemotherapy agents. Genetic variations in CES1 can affect drug activation and breakdown, influencing both therapeutic effects and the risk of side effects. Testing CES1 can help optimize drug dosing and improve treatment outcomes.

CSNK2A1 (Casein Kinase 2 Alpha 1): CSNK2A1 encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in various cellular processes, including cell growth, proliferation, and signal transduction. Dysregulation of CSNK2A1 has been linked to cancer and developmental disorders....

CST7 (Cystatin F): CST7 encodes a protein inhibitor of cysteine proteases, playing a role in immune regulation. It's particularly important in controlling the activity of proteases in immune cells like lymphocytes and macrophages. Dysregulation of CST7 can impact immune responses and has been linked to immune disorders....

CTDSPL2 (CTD Small Phosphatase Like 2): CTDSPL2 is implicated in the regulation of transcriptional and post-transcriptional processes through its role in RNA polymerase II dephosphorylation. It may influence gene expression, cell cycle progression, and differentiation. While its specific functions are still being elucidated, CTDSPL2's activity is important for understanding cellular growth control and its dysregulation in diseases such as cancer....

CTNNA2 (Catenin Alpha 2): CTNNA2 is involved in cell adhesion and signaling pathways. It plays a role in the nervous system, particularly in synaptic plasticity and neuronal connectivity. Mutations or alterations in CTNNA2 have been linked to neurological disorders, highlighting its importance in brain function and development....

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....

CXCR4 (C-X-C Motif Chemokine Receptor 4): CXCR4 is a gene that codes for a chemokine receptor involved in immune responses and cell migration. It binds to its ligand, CXCL12, and regulates the trafficking of immune cells. CXCR4 is crucial for immune system function and is implicated in various diseases, including cancer and HIV infection....

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....

CYP19A1, also known as aromatase, is an enzyme that catalyzes the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This process is crucial in the biosynthesis of estrogen, which plays essential roles in various physiological processes, including sexual development, reproduction, bone metabolism, and cardiovascular health. One of the primary functions of CYP19A1 is its role in the synthesis of estrogen from androgens. It is expressed in various tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, CYP19A1 is primarily responsible for estrogen production in the ovaries, where it converts androgens produced by the adrenal glands...

CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6): CYP2B6 is an enzyme that plays a role in the metabolism of various drugs, including bupropion, efavirenz, methadone, and certain anesthetics. Genetic variations in CYP2B6 affect enzyme activity, influencing drug breakdown, effectiveness, and the risk of side effects. Testing CYP2B6 can help optimize medication dosing and reduce the likelihood of adverse reactions.

CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19): CYP2C19 is an enzyme involved in metabolizing medications such as proton pump inhibitors, antidepressants, and clopidogrel. Genetic variations affect enzyme activity, influencing drug effectiveness and the risk of side effects. Testing CYP2C19 can help optimize medication dosing and treatment choices.

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9): CYP2C9 is a key enzyme in the cytochrome P450 enzyme family, responsible for the metabolism of various drugs and endogenous compounds. It plays a significant role in the detoxification and clearance of substances in the liver. Genetic variations in CYP2C9 can affect drug metabolism, influencing drug efficacy and toxicity, and are important considerations in personalized medicine for determining appropriate drug dosages for individual patients....

CYP3A4 (Cytochrome P450 Family 3 Subfamily A Member 4): CYP3A4 is one of the most important enzymes in drug metabolism, involved in breaking down a wide range of medications, including statins, immunosuppressants, benzodiazepines, and certain chemotherapy drugs. Genetic variations in CYP3A4 can influence drug clearance, affecting both efficacy and the risk of side effects. Testing CYP3A4 can help guide medication dosing for safer and more effective treatment.

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2): CYP4F2 is part of the cytochrome P450 family, involved in metabolizing fatty acids, drugs, and toxins. It plays a role in vitamin K and eicosanoid metabolism, affecting blood clotting and inflammation processes. Genetic variations in CYP4F2 can influence responses to certain medications, especially anticoagulants....

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2): CYP4V2 is an enzyme involved in fatty acid and lipid metabolism. It plays a role in the biosynthesis of fatty acid epoxides, which have various physiological functions, including in the regulation of blood pressure and inflammation. Mutations in CYP4V2 are associated with Bietti's crystalline dystrophy, a rare genetic eye disorder that affects the retina and can lead to progressive vision loss, highlighting its role in ocular health and lipid processing....

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase): D2HGDH is a mitochondrial enzyme crucial in the metabolism of D-2-hydroxyglutarate, a byproduct of cellular metabolism. Its role is to prevent the accumulation of D-2-hydroxyglutarate, which can be harmful in high concentrations. Dysregulation of this enzyme leads to D-2-hydroxyglutaric aciduria, characterized by a wide range of clinical symptoms including developmental delay, epilepsy, and cardiomyopathy....

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....

DACT1 (Dishevelled-Binding Antagonist of Beta-Catenin 1): DACT1 is involved in the Wnt signaling pathway, which plays a crucial role in embryonic development, cell proliferation, and differentiation. By modulating Wnt signaling, DACT1 influences various aspects of development and tissue homeostasis. Dysregulation of DACT1 expression has been implicated in several cancers, as Wnt signaling is critical for cell growth and differentiation, making it a target for cancer research....

DAP (Death-Associated Protein): DAP is involved in the regulation of cell death, a critical process in development and disease. It plays a role in apoptosis, the programmed cell death mechanism, which is essential for maintaining cellular health and preventing cancer. Understanding the function of DAP is key in studying cell life cycle and in developing therapies for diseases where cell death regulation is disrupted....

DBX1 (Developing Brain Homeobox 1): DBX1 is a transcription factor important in the development of the spinal cord and nervous system. It plays a role in the differentiation of neural progenitor cells and is critical for proper neural development....

DCAF4 (DDB1 And CUL4 Associated Factor 4): DCAF4 is a component of the CUL4-DDB1 ubiquitin ligase complex, which plays a crucial role in protein ubiquitination and degradation, a key mechanism for regulating protein levels within cells. This process is vital for maintaining cellular homeostasis and responding to stress. DCAF4 specifically contributes to the selection of substrates for ubiquitination, influencing cell cycle regulation, DNA repair, and signal transduction. Alterations in the function of components like DCAF4 can lead to cellular dysregulation and have been linked to the development of cancer and other diseases, highlighting its role in proteostasis and cellular integrity....

DCDC2B (Doublecortin Domain Containing 2B): DCDC2B is a member of the doublecortin family, which is involved in neuronal migration and cortical development. Proteins in this family are characterized by doublecortin domains that bind to microtubules, influencing neuronal cell movement and the proper formation of the cerebral cortex. Mutations or dysregulation in DCDC2B may be linked to neurological disorders and developmental abnormalities, highlighting its importance in brain development and function....

DDI1 (DNA-Damage Inducible 1 Homolog 1): DDI1 is a protein with roles in DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It is involved in the response to DNA damage and can act as a ubiquitin-dependent protease, participating in the degradation of certain proteins to maintain cellular integrity. The multifunctional nature of DDI1 suggests its importance in protecting cells from stress and its potential involvement in cancer and other diseases related to DNA damage and repair mechanisms....

DIO1, also known as Type 1 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned predominantly within various tissues, including the liver, kidney, and thyroid gland, DIO1 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the primary functions of DIO1 is its involvement in the activation of thyroid hormones through the conversion of thyroxine (T4), the inactive form of thyroid hormone, into triiodothyronine (T3), the active form. DIO1 accomplishes this by catalyzing the removal of an iodine atom from the outer ring of T4, generating T3,...

DIPK2A (Divergent Protein Kinase Domain 2A): DIPK2A is a lesser-known gene with limited information available. It may be involved in kinase activity, impacting cellular signaling pathways....

DLC1 (Deleted in Liver Cancer 1): DLC1 functions as a tumor suppressor gene and is often inactivated in various types of cancer. It encodes a Rho GTPase-activating protein, involved in regulating cell shape, motility, and proliferation. Restoration of DLC1 function has been explored as a therapeutic approach in cancer treatment....

DLEU7 (Deleted in Lymphocytic Leukemia 7): DLEU7 is a gene that has garnered attention in cancer research, particularly in the context of chronic lymphocytic leukemia. Its name reflects its discovery, where it was found deleted in certain leukemia cases. This gene is thought to play a role in cell cycle regulation and apoptosis, and its deletion or dysfunction may contribute to the development and progression of cancer. Research into DLEU7 offers potential insights into novel therapeutic targets and diagnostic markers for leukemia and possibly other cancers....

DLG5 (Discs Large Homolog 5): DLG5 is a member of the Discs Large (DLG) protein family and is involved in the organization of cellular structures and signal transduction at cell junctions. It plays a role in maintaining epithelial cell integrity and may have implications in inflammatory bowel diseases (IBD) such as Crohn's disease....

DLK1 (Delta Like Non-Canonical Notch Ligand 1): DLK1 is a transmembrane protein involved in the regulation of adipogenesis, neurogenesis, and other developmental processes. It acts as a regulator of Notch signaling pathways and has been implicated in metabolic regulation and cancer....

DMBX1 (Diencephalon/Mesencephalon Homeobox 1): DMBX1 is a homeobox gene implicated in early brain development, particularly in the diencephalon and mesencephalon regions. Its role is crucial in the formation and differentiation of various brain structures. Alterations in DMBX1 expression or function may have implications in developmental brain disorders....

DNAJA4 (DnaJ Heat Shock Protein Family (Hsp40) Member A4): DNAJA4 is part of the Hsp40 family, proteins that assist in protein folding and prevent misfolded protein aggregation. It's involved in the cellular stress response, particularly in response to heat shock. Its function is crucial for maintaining protein homeostasis and cell survival under stress....

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4): DNAJB4 is a co-chaperone that assists in protein folding, degradation, and assembly. It helps in managing cellular stress responses, particularly in response to heat shock. DNAJB4 is important in maintaining cellular homeostasis and protecting cells from stress-induced damage....

DOCK3 (Dedicator Of Cytokinesis 3): DOCK3 is a member of the DOCK family, involved in actin cytoskeleton remodeling and cell motility. It's particularly important in the nervous system, where it may influence neural development and synaptic function. Dysregulation of DOCK3 has been linked to neurodegenerative diseases....

DOK5 (Docking Protein 5): DOK5 is part of the DOK family of proteins, which are substrates for receptor tyrosine kinases and play roles in signaling pathways that regulate cell growth, differentiation, and survival. DOK5 specifically is involved in neuronal differentiation and has been implicated in insulin signaling pathways. Its function is crucial for nervous system development and potentially for the regulation of metabolic processes....

DOK6 (Docking Protein 6): DOK6 is part of the DOK family proteins, acting as substrates and regulators of tyrosine kinases. It's involved in signaling pathways related to nerve cell development and function. DOK6 has been implicated in neuronal differentiation and has potential relevance in neurological disorders....

DPYD (Dihydropyrimidine Dehydrogenase): DPYD is an enzyme responsible for breaking down fluoropyrimidine drugs, such as 5-fluorouracil (5-FU) and capecitabine, commonly used in cancer treatment. Genetic variations in DPYD can lead to reduced enzyme activity, increasing the risk of severe toxicity, including bone marrow suppression and gastrointestinal side effects. Testing DPYD helps identify individuals who require dose adjustments or alternative treatments to improve safety and effectiveness.

DSP (Desmoplakin): Desmoplakin is a key cytoskeletal linker protein essential for the structural integrity and function of desmosomes, which are specialized cell-cell adhesion structures in epithelial and cardiac tissues. It plays a critical role in the mechanical coupling and signal transduction that underlie cellular cohesion and stability. By anchoring intermediate filaments to desmosomal cadherins, DSP ensures the mechanical integrity of tissues subjected to significant stress, such as the skin, heart, and certain mucosal surfaces. Mutations in the DSP gene can lead to a variety of genetic disorders, including cardiomyopathies and skin diseases, highlighting its crucial role in tissue architecture and...

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....

EDAR (Ectodysplasin A Receptor): EDAR is a receptor important for the development of skin appendages like hair, teeth, and sweat glands. Mutations in this gene can lead to ectodermal dysplasias, a group of disorders affecting the development of these structures....

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....

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....

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....

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....

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....

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....

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...

FRMD4B (FERM Domain Containing 4B): FRMD4B is a member of the FERM domain-containing proteins, known for their role in mediating linkages between the cell membrane and the cytoskeleton. This protein plays a key role in cellular processes such as signal transduction, cell morphology, and migration by interacting with various transmembrane proteins and influencing their localization and function. FRMD4B's involvement is crucial in the development and maintenance of neuronal networks, as well as in the regulation of cell polarity and membrane organization. Its function is significant for proper neural development and may be implicated in neurological disorders. The dysregulation of FRMD4B...

GATA2 (GATA Binding Protein 2): GATA2 is a transcription factor critical for the regulation of genes involved in hematopoiesis and endothelial cell function. It plays an essential role in the development and maintenance of hematopoietic stem cells and the immune system. Mutations in GATA2 are associated with several hematologic disorders, including GATA2 deficiency, which can lead to immunodeficiency, myelodysplastic syndrome, and acute myeloid leukemia....

JAML (Junctional Adhesion Molecule Like): JAML is a cell adhesion molecule that plays a crucial role in the regulation of leukocyte transmigration across epithelial and endothelial barriers, a key process in the immune response to tissue injury and infection. It is involved in mediating cell-cell interactions that facilitate the movement of immune cells from the bloodstream into tissues. JAML's function is important for understanding inflammatory responses and the mechanisms of immune surveillance, making it a potential target for therapeutic intervention in inflammatory diseases and immune disorders....

Latex allergy arises from an adverse immune response to natural rubber latex, a material derived from the sap of the rubber tree. Used in numerous products, from medical devices to everyday items, latex can trigger reactions ranging from skin irritation to severe anaphylaxis in sensitive individuals....

LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma): LPP plays a role in cell adhesion, migration, and organization of the actin cytoskeleton. It is involved in the formation of focal adhesions and stress fibers, linking the cytoskeleton to the extracellular matrix. This gene's function is crucial for the regulation of cell movement and the maintenance of cellular structure. Alterations in LPP have been implicated in the development of lipomas and other tumors, highlighting its importance in cell biology and cancer research...

NUDT15 (Nudix Hydrolase 15): NUDT15 is an enzyme involved in the metabolism of thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can lead to reduced enzyme activity, increasing the risk of severe side effects like bone marrow suppression. Testing NUDT15 helps determine the appropriate thiopurine dosage to minimize toxicity and improve treatment safety.

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....

SLC4A4 (Solute Carrier Family 4, Member 4): SLC4A4, part of the solute carrier family, is predominantly involved in the regulation of bicarbonate transport and acid-base balance within the body. It functions as an electrogenic sodium bicarbonate cotransporter, primarily expressed in the kidneys and pancreas, playing a critical role in renal bicarbonate reabsorption and pH regulation. Through its action, SLC4A4 facilitates the fine-tuning of bicarbonate secretion and reabsorption processes, essential for maintaining the body's overall acid-base homeostasis. Mutations in the SLC4A4 gene are associated with various renal tubular acidosis disorders, characterized by an inability to properly acidify the urine, leading to...

SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1): SLCO1B1 is a transporter protein that helps move drugs, including statins, into liver cells for metabolism. Genetic variations in SLCO1B1 can reduce transporter function, leading to higher drug levels in the blood and an increased risk of statin-induced muscle side effects. Testing SLCO1B1 can help guide statin selection and dosing to minimize adverse effects.

SOCS2 (Suppressor of Cytokine Signaling 2): SOCS2 is a key regulator in the cytokine signaling pathway, part of a family of proteins that negatively regulate cytokine signaling to maintain immune balance and prevent excessive inflammation. It targets signaling pathways initiated by growth hormones and various cytokines to control cell growth, differentiation, and apoptosis. SOCS2's role in modulating immune responses and its involvement in metabolic regulation make it a subject of interest for understanding immune disorders, cancers, and metabolic diseases. Research into SOCS2 aims to uncover its potential as a therapeutic target for managing diseases related to immune dysregulation and metabolic...

SPPL3 (Signal Peptide Peptidase Like 3): SPPL3 is part of the intramembrane-cleaving protease family, involved in the processing of various transmembrane proteins. It plays a role in cellular signaling and regulation by cleaving the intracellular domains of its substrates, thereby modulating their function. SPPL3 is important in immune system regulation, particularly in the maturation of B cells, and has been implicated in certain autoimmune conditions. Its study is significant for understanding the mechanisms of intramembrane proteolysis and its implications in human health and disease....

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....

TPMT (Thiopurine S-Methyltransferase): TPMT is an enzyme that metabolizes thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine, which are used in autoimmune diseases and cancer treatment. Genetic variations in TPMT affect enzyme activity, influencing drug breakdown and toxicity risk. Individuals with low TPMT activity are at higher risk of severe bone marrow suppression. Testing TPMT helps adjust thiopurine dosage to reduce adverse effects and improve treatment safety.

VIPR2 (Vasoactive Intestinal Peptide Receptor 2): VIPR2 encodes a receptor for vasoactive intestinal peptide (VIP), a neuropeptide involved in various physiological processes, including smooth muscle relaxation, immune modulation, and neurotransmission. VIPR2 is found on the surface of cells in various tissues and plays a role in VIP signaling....

VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1): VKORC1 is an enzyme involved in the recycling of vitamin K, which is essential for blood clotting. Genetic variations in VKORC1 influence sensitivity to vitamin K antagonists like warfarin, affecting dosage requirements and the risk of bleeding. Testing VKORC1 can help personalize anticoagulant therapy for safer and more effective treatment.