DNA

SLC25A2 (Solute Carrier Family 25 Member 2): SLC25A2 encodes a member of the solute carrier family of mitochondrial transport proteins, specifically involved in the transport of ornithine across the mitochondrial membrane. This process is crucial in the urea cycle and amino acid metabolism. Dysfunctions in this gene can lead to metabolic disorders, highlighting its importance in understanding metabolic pathways and potential therapeutic targets for related diseases....

ABCA1 (ATP-binding cassette sub-family A member 1): ABCA1 is a crucial membrane protein involved in cellular lipid transport, particularly in the efflux of cholesterol and phospholipids from cells to lipid-poor apolipoproteins, forming nascent high-density lipoprotein (HDL) particles. This process, known as reverse cholesterol transport, plays a fundamental role in the regulation of cellular cholesterol homeostasis and the maintenance of lipid metabolism. ABCA1 is predominantly expressed in the liver and peripheral tissues such as macrophages, where it facilitates cholesterol removal from cells, thereby exerting anti-atherogenic effects and reducing the risk of cardiovascular diseases. Dysfunctional ABCA1 expression or mutations in the ABCA1...

ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is part of the ATP-binding cassette transporter family and plays a crucial role in the regulation of dietary cholesterol. It functions in tandem with another gene, ABCG8, to limit intestinal absorption and promote the excretion of sterols from the body. Mutations in ABCG5 are associated with sitosterolemia, a rare disorder characterized by high levels of plant sterols in blood, leading to atherosclerosis and other cardiovascular issues...

ABT1, also known as Activator of Basal Transcription 1, is a protein that plays a critical role in the regulation of gene expression by promoting the initiation of transcription. It is a component of the RNA polymerase I (Pol I) transcription machinery, which is responsible for transcribing ribosomal RNA (rRNA) genes to generate ribosomal RNA transcripts. One of the primary functions of ABT1 is its role as a transcription factor that binds to specific DNA sequences within the promoter regions of rRNA genes. By binding to these promoter sequences, ABT1 recruits other transcription factors and the RNA polymerase I complex to...

ACKR1 (Atypical Chemokine Receptor 1): ACKR1, formerly known as DARC (Duffy Antigen Receptor for Chemokines), acts as a decoy receptor for chemokines, modulating the immune response and inflammatory pathways. Unlike typical chemokine receptors, ACKR1 does not signal intracellularly but serves to sequester chemokines, reducing their availability to signal through conventional chemokine receptors. This unique mechanism plays a role in the regulation of inflammation and in protecting tissues from excessive damage during immune responses. Variations in ACKR1 are associated with susceptibility to infection and the severity of inflammatory diseases....

ACKR1 (Atypical Chemokine Receptor 1): ACKR1, formerly known as Duffy antigen receptor for chemokines (DARC), acts as a decoy receptor that binds chemokines without signaling. It modulates the immune response by sequestering chemokines, affecting leukocyte migration. ACKR1 is also known for its role in malaria resistance, as it serves as a receptor for Plasmodium vivax. Variations in ACKR1 can influence susceptibility to infection and autoimmune diseases, highlighting its role in immunity and disease....

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....

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....

ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme that belongs to the adenosine deaminase family and is involved in RNA editing. It specifically deaminates adenosine to inosine in RNA molecules, leading to alterations in RNA sequences. This post-transcriptional modification can impact the structure and function of RNA, potentially influencing various cellular processes and gene expression regulation....

ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases....

ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a subtype of the alpha-1-adrenergic receptors, involved in the physiological responses to adrenaline and noradrenaline, particularly in smooth muscle contraction. It plays a role in cardiovascular function, including blood pressure regulation and vascular tone. Abnormalities in ADRA1A can have implications in cardiovascular diseases and disorders of the autonomic nervous system....

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....

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....

AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a central role in the conversion of S-adenosylhomocysteine to homocysteine, a critical step in the body's methylation processes and detoxification....

AK9 (Adenylate Kinase 9): Adenylate Kinase 9, also known as AK9, is a member of the adenylate kinase family, which catalyzes the reversible transfer of phosphate groups between adenine nucleotides, primarily ATP and AMP. AK9 specifically localizes to the mitochondria, where it plays a crucial role in energy metabolism and nucleotide homeostasis. By facilitating the interconversion of ATP and AMP, AK9 contributes to the regulation of cellular energy levels and the maintenance of adenine nucleotide balance. This enzyme is implicated in various cellular processes, including mitochondrial biogenesis, apoptosis, and stress response pathways. Dysregulation of AK9 has been linked to metabolic...

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase family, which is involved in the detoxification of aldehydes and ketones. The specific function of AKR1E2 is not fully understood, but members of this family play roles in metabolism and the response to oxidative stress. Research into AKR1E2 could provide insights into metabolic disorders and cellular responses to environmental stressors....

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....

ALX4 (ALX Homeobox 4): ALX4 is a transcription factor involved in skull and limb development. Mutations in this gene can lead to craniofacial malformations and skeletal abnormalities, highlighting its importance in bone development and morphogenesis....

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....

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....

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....

ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is involved in cell signaling pathways, acting as a GTPase-activating protein for Arf and Rho family members. It's important for cell migration and cytoskeletal organization, with potential implications in cancer metastasis and cellular morphology....

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 plays a role in actin cytoskeleton remodeling, cell morphology, and motility through its regulation of Rho GTPases. These GTPases are key regulators of cellular processes such as vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27's function in modulating cell adhesion and migration is particularly relevant in tissue development and wound healing, as well as in tumor progression and metastasis....

BANK1, also known as B-cell scaffold protein with ankyrin repeats 1, is a protein predominantly expressed in B lymphocytes, a type of white blood cell crucial for adaptive immunity. BANK1 plays a significant role in modulating B-cell receptor (BCR) signaling, a pivotal process in the activation and differentiation of B cells. One of the primary functions of BANK1 is its involvement in BCR signaling pathway regulation. BANK1 acts as a scaffold protein, facilitating the assembly of signaling complexes upon BCR engagement. It interacts with various signaling molecules, including kinases, phosphatases, and adapter proteins, thereby modulating downstream signaling cascades. Through its scaffolding...

BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, a process of programmed cell death. BCL2 proteins play a crucial role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is implicated in cancer and various diseases....

BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor implicated in the regulation of circadian rhythms and sleep. Variations in this gene are associated with natural short sleep phenotype, where individuals function well with less sleep than average. Understanding BHLHE41 could provide insights into sleep disorders and circadian rhythm regulation....

BHMT (Betaine-Homocysteine S-Methyltransferase): BHMT plays a crucial role in the metabolism of homocysteine, a process important for cardiovascular and neurological health. It catalyzes the conversion of homocysteine to methionine, using betaine as a methyl donor. Dysregulation of BHMT can lead to elevated homocysteine levels, associated with cardiovascular diseases and other health issues....

BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor for bone morphogenetic proteins, involved in bone formation and development. It plays a role in cell growth and differentiation and has been studied in relation to skeletal disorders and cancers....

C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47, located on chromosome 6, is a lesser-characterized gene. Open reading frames like C6ORF47 often represent potential protein-coding regions, but their specific functions can be enigmatic. The study of such genes can uncover new aspects of cellular function and contribute to a more comprehensive understanding of the human genome....

C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene associated with retinal dystrophies and Bardet-Biedl syndrome, a disorder characterized by vision loss, obesity, and other symptoms. Mutations in this gene can lead to retinal degeneration and impaired ciliary function, highlighting its role in photoreceptor cell maintenance and cilia-related processes....

CA2 (Carbonic Anhydrase II): CA2 encodes an enzyme that is extremely important in the regulation of pH and fluid balance in various tissues, including the kidney. It catalyzes the reversible hydration of carbon dioxide, playing a vital role in respiratory gas exchange and acid-base balance. Mutations in CA2 can lead to conditions like osteopetrosis and renal tubular acidosis, highlighting its essential role in bone and kidney function....

CDKL2 (Cyclin-Dependent Kinase-Like 2): CDKL2 is involved in neuronal development and function. It belongs to the cyclin-dependent kinase family and is thought to play a role in signal transduction and cell cycle regulation. Its specific role in neurons suggests a potential involvement in neurodevelopmental processes and neurological disorders....

CLOCK (Circadian Locomotor Output Cycles Kaput): The CLOCK gene is fundamental in the regulation of circadian rhythms, which are the physical, mental, and behavioral changes following a 24-hour cycle. It is involved in the control of sleep-wake cycles and various physiological processes including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, leading to various health issues such as sleep disorders, metabolic syndrome, and mood disturbances....

C-reactive protein (CRP) testing measures the level of CRP in the blood, an indicator of inflammation in the body. Elevated CRP levels can signal acute inflammations, infections, and chronic diseases such as rheumatoid arthritis or heart disease. This test is commonly used to diagnose and monitor conditions that cause inflammation. It's particularly valuable for detecting flare-ups in chronic inflammatory conditions and assessing the risk of cardiovascular diseases. Regular CRP testing helps in guiding treatment decisions and monitoring the effectiveness of therapies in reducing inflammation....

EDA2R, also known as Ectodysplasin A2 receptor, is a protein encoded by the EDA2R gene. It belongs to the tumor necrosis factor receptor (TNFR) superfamily and serves as a receptor for ectodysplasin A2 (EDA-A2), a signaling molecule involved in the development of ectodermal tissues such as hair, teeth, and sweat glands. One of the primary functions of EDA2R is its role in mediating the effects of EDA-A2 signaling during embryonic development. EDA-A2, also known as ectodysplasin A2 or EDA2, is a ligand that binds to EDA2R, initiating signaling cascades that regulate the formation and patterning of ectodermal structures. This signaling pathway...

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...

EXOC1L (Exocyst Complex Component 1 Like): EXOC1L is a less characterized component of the exocyst complex, which is involved in vesicle trafficking and exocytosis. It may play a role in the targeted delivery of vesicles to the plasma membrane, impacting processes such as cell signaling, membrane expansion, and secretion....

FAM227B (Family with Sequence Similarity 227 Member B): FAM227B is a gene with currently limited functional information. Further research is needed to elucidate its specific role and significance in cellular processes and human health....

FANCA (Fanconi anemia group A protein): FANCA is a critical component of the Fanconi anemia (FA) pathway, a DNA repair mechanism essential for maintaining genomic stability and preventing chromosomal instability. This protein is involved in the activation of the FA core complex, which functions in the recognition and repair of DNA interstrand crosslinks (ICLs). ICLs are highly toxic DNA lesions that can block DNA replication and transcription, leading to genome instability and cell death if left unrepaired. FANCA plays a pivotal role in coordinating the assembly of the FA core complex and its recruitment to sites of DNA damage, where...

GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone known as the "hunger hormone." Ghrelin stimulates appetite and food intake by acting on the hypothalamus. It plays a role in regulating meal initiation and body weight....

ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule involved in leukocyte migration and immune responses. It's crucial for the immune system's ability to reach sites of inflammation. Dysregulation of ITGA4 can lead to autoimmune disorders and impacts the efficacy of immune responses....

JAK2 (Janus Kinase 2): JAK2 is a gene encoding a kinase enzyme that is part of the Janus kinase (JAK) family. JAK2 is involved in cytokine signaling pathways and is crucial for the activation of immune and hematopoietic cells. Mutations in JAK2 are associated with blood disorders such as polycythemia vera and myeloproliferative neoplasms....

Meat from young sheep, commonly consumed in various cuisines. Can cause allergic reactions in some individuals.

LDLRAD3 (Low Density Lipoprotein Receptor Class A Domain Containing 3): This gene encodes a protein that is believed to be involved in lipid metabolism and transport. It shares similarities with low-density lipoprotein receptors, suggesting a role in cholesterol homeostasis. Its exact function, however, remains less understood....

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...

LYST (Lysosomal Trafficking Regulator): LYST is a key regulator of lysosomal trafficking, critical for the proper function of lysosomes in cellular digestion and waste management. Mutations in the LYST gene cause Chediak-Higashi syndrome, a rare immunodeficiency disorder characterized by abnormal lysosome formation, leading to defective immune responses and increased susceptibility to infections. LYST's role in regulating lysosomal function highlights its importance in cellular homeostasis and the immune system's effectiveness....

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. The specific function of MFSD10 is still being investigated, but it may play a role in nutrient transport and cellular homeostasis....

MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is involved in chromatin remodeling and gene expression regulation. This gene has implications in cellular processes like DNA repair and apoptosis. Mutations or dysfunctions in MORC4 could be linked to various cancers and developmental disorders, making it a focus in the study of gene regulation and cancer biology....

MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is part of the MS4A gene family, which is involved in signal transduction and cellular activation. The specific role of MS4A13 is not well understood, but members of this family are important in immune responses and in the pathogenesis of diseases like Alzheimer's....

MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a vital role in the mitochondrial one-carbon metabolic pathway, crucial for nucleotide biosynthesis, methylation reactions, and amino acid homeostasis. This enzyme is highly expressed in rapidly dividing cells, including cancer cells, where it contributes to the synthesis of purines and thymidylate, essential for DNA replication and repair. MTHFD2's involvement in cellular metabolism and proliferation highlights its importance in developmental processes and cellular growth. Due to its pivotal role in supporting the metabolic demands of tumor growth and its limited expression in normal adult tissues, MTHFD2 has emerged as a potential...

MTHFR (Methylenetetrahydrofolate Reductase): MTHFR is a key enzyme involved in folate metabolism and the regulation of homocysteine levels in the body. This enzyme catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a crucial step in the remethylation of homocysteine to methionine. Methionine serves as a precursor for S-adenosylmethionine (SAM), a methyl donor essential for numerous methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. Variants in the MTHFR gene, particularly the C677T and A1298C polymorphisms, have been associated with altered enzyme activity and folate metabolism. These variants can lead to elevated homocysteine levels and reduced availability of methyl...

MTMR7 (Myotubularin Related Protein 7): MTMR7 is part of the myotubularin family, enzymes involved in the regulation of cellular lipid levels, specifically phosphoinositides. This gene plays a role in intracellular signaling and trafficking. Mutations or dysregulation of MTMR7 can impact cellular processes like autophagy and endocytosis, and have been studied in the context of neurodegenerative diseases....

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....

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a critical enzyme involved in the remethylation pathway of homocysteine metabolism. This enzyme catalyzes the transfer of a methyl group from 5-methyltetrahydrofolate (5-MTHF) to homocysteine, generating methionine and tetrahydrofolate (THF). Methionine serves as a precursor for S-adenosylmethionine (SAM), a universal methyl donor essential for various methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. The remethylation of homocysteine by MTR is a vital process for maintaining normal homocysteine levels and ensuring an adequate supply of methyl groups for cellular methylation reactions. Dysregulation of MTR activity, often due to genetic mutations or deficiencies...

MTRES1 (Mitochondrial tRNA Editing Site 1): MTRES1 is a gene related to mitochondrial tRNA (transfer RNA) editing. tRNAs are essential for protein synthesis in mitochondria. MTRES1 likely plays a role in maintaining the fidelity of mitochondrial protein translation by editing tRNAs....

MTRR (Methionine Synthase Reductase): MTRR is crucial for regenerating methylcobalamin, ensuring the continuous function of MTR in homocysteine metabolism. It plays a key role in maintaining adequate methionine levels and supports normal DNA synthesis. MTRR mutations are associated with homocystinuria, which can lead to developmental and neurological issues. Insights into MTRR function offer potential for genetic disorder therapies....

MTX1 (Metaxin 1): MTX1 encodes a protein involved in mitochondrial transport and organization. It plays a role in the proper functioning and positioning of mitochondria within cells, which is crucial for energy production and cellular processes....

MUC1 (Mucin 1): MUC1 encodes a glycoprotein found on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It serves protective and lubricating functions and is involved in cell signaling. Aberrant expression of MUC1 is associated with several cancers....

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....

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....

MYC (MYC Proto-Oncogene, BHLH Transcription Factor): The MYC gene is a well-known oncogene playing a crucial role in cell cycle progression, apoptosis, and cellular transformation. It's a transcription factor that regulates the expression of numerous genes, influencing various cellular processes. Overexpression of MYC is commonly observed in a wide range of cancers, making it a significant focus in oncology research. The regulation of MYC and its pathways is a key area of study for developing targeted cancer therapies, as its dysregulation is linked to tumorigenesis, cancer progression, and resistance to therapy....

MYEOV (Myeloma Overexpressed Gene): MYEOV is often overexpressed in multiple myeloma and other cancers. It's believed to play a role in cancer cell proliferation and survival, making it a potential target for cancer therapy....

MYH11 (Myosin Heavy Chain 11): MYH11 encodes a smooth muscle myosin heavy chain, a key component of the contractile apparatus in smooth muscle cells. This protein plays a pivotal role in the contraction and relaxation of smooth muscle fibers, which is fundamental to various physiological processes, including vascular regulation, gastrointestinal motility, and respiratory function. MYH11 is essential for maintaining the structural integrity and function of smooth muscle tissues across the body. Mutations or dysregulation in the MYH11 gene can lead to a range of vascular disorders, including thoracic aortic aneurysms and dissections, highlighting its critical role in vascular health. The...

MYH15 (Myosin Heavy Chain 15): MYH15 encodes a myosin heavy chain protein, predominantly found in skeletal muscle. Myosins are motor proteins involved in muscle contraction and cellular motility. The specific role and significance of MYH15 in muscle function and development are subjects of ongoing research....

MYH6 (Myosin Heavy Chain 6): MYH6 is a gene that encodes the alpha heavy chain subunit of cardiac myosin, a motor protein found in the heart muscle. This protein plays a fundamental role in the contraction of the cardiac muscle, enabling the heart to pump blood efficiently throughout the body. The alpha heavy chain is particularly important for the atrial contraction, contributing to the initial filling phase of the ventricles. Mutations in MYH6 have been linked to various cardiac disorders, including atrial septal defects, cardiomyopathies, and heart rhythm abnormalities, underscoring its critical role in cardiac function and development. The proper...

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....

MYO18A (Myosin XVIIIA): MYO18A is a unique myosin that plays a role in the organization of the cytoskeleton and in cell migration. It is involved in muscle development and function, and its abnormalities are linked to muscle disorders and possibly some forms of cancer....

NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38, also known as MAK3, is part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins, a modification affecting protein stability, localization, and function. While the specific biological roles of NAA38 and its substrate specificity are not fully understood, N-terminal acetylation is a widespread and important post-translational modification. Studying NAA38 and related enzymes can provide insights into the regulatory mechanisms of protein function and the implications of protein acetylation in cellular processes and diseases....

NCLN (Nicalin): NCLN is a part of the nicalin-NOMO (nodal modulator) complex, which is involved in various cellular processes including signaling pathways that regulate embryonic development and organogenesis. While the specific functions of NCLN are still being elucidated, it is thought to play a role in modulating signaling pathways such as the Nodal signaling, important for patterning and development. NCLN's function and its complex suggest its potential involvement in developmental disorders and diseases related to signaling pathway dysregulation....

NECTIN2 (Nectin Cell Adhesion Molecule 2): NECTIN2, also known as CD112, is a transmembrane cell adhesion molecule that belongs to the nectin family. It plays a pivotal role in mediating cell-cell adhesion and is predominantly expressed in epithelial and neuronal tissues. NECTIN2 functions as a homophilic and heterophilic adhesion molecule, interacting with other nectins and nectin-like proteins, as well as with receptors on neighboring cells, such as DNAM-1 (CD226), CD96, and TIGIT. Through these interactions, NECTIN2 contributes to the formation and maintenance of adherens junctions and synaptic connections, thereby regulating processes such as cell migration, polarization, and synaptic transmission. Dysregulation...

NNT (Nicotinamide Nucleotide Transhydrogenase): NNT is an enzyme located in the mitochondrial inner membrane, involved in the regeneration of NADPH from NADH. This process is crucial for maintaining the cellular redox state and protecting cells from oxidative stress. Deficiencies in NNT can lead to impaired mitochondrial function and increased susceptibility to oxidative damage, contributing to metabolic disorders and chronic diseases....

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....

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....

NR4A2 (Nuclear Receptor Subfamily 4 Group A Member 2): NR4A2, also known as Nurr1, is a transcription factor essential for the development and maintenance of dopaminergic neurons in the brain. It's involved in neuroprotection and has been studied in relation to Parkinson's disease and other neurodegenerative disorders....

NRBF2, also known as Nuclear Receptor Binding Factor 2, is a protein involved in autophagy, a cellular process responsible for degrading and recycling damaged or unnecessary cellular components. NRBF2 plays a crucial role in the regulation of autophagy by facilitating the formation of autophagosomes, double-membraned vesicles that engulf and sequester cellular cargo for degradation. One of the primary functions of NRBF2 is its interaction with the autophagy-initiating kinase complex, ULK1 (Unc-51 Like Autophagy Activating Kinase 1) complex. NRBF2 binds to the ULK1 complex, which consists of ULK1, ATG13, FIP200, and ATG101, and promotes its stability and activity. This interaction is essential...

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 regulates the synthesis of sphingolipids, essential components of cell membranes and signaling molecules. Its activity is critical in maintaining cellular lipid homeostasis and modulating the inflammatory response. Variants in the ORMDL3 gene have been associated with an increased risk of asthma and other allergic diseases, highlighting its role in immune regulation and the pathogenesis of inflammatory conditions....

PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM encodes an enzyme involved in the amidation of peptide hormones, a critical step in the maturation of neuropeptides and peptide hormones. It plays a role in neurotransmitter synthesis and hormone production. Dysregulation of PAM can impact neuropeptide function and hormonal signaling....

PAPLN (Pappalysin 1): PAPLN is a gene associated with pregnancy-associated plasma protein-A (PAPP-A), which is involved in pregnancy-related processes. PAPP-A plays a role in the regulation of insulin-like growth factor (IGF) signaling....

PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that cleaves insulin-like growth factor binding proteins, thereby increasing the availability of insulin-like growth factors (IGFs). It plays a significant role in fetal development and has been used as a biomarker in prenatal screening for aneuploidies. Abnormal levels of PAPPA are associated with adverse pregnancy outcomes, including preeclampsia and intrauterine growth restriction....

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is essential for the biosynthesis of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulfate donor in various sulfation reactions. It's important in the metabolism of hormones, drugs, and other molecules. Mutations in PAPSS2 can lead to disorders like spondyloepimetaphyseal dysplasia, underscoring its role in skeletal development....

PARD3B (Par-3 Family Cell Polarity Regulator Beta): PARD3B is involved in the establishment of cell polarity and the formation of tight junctions in epithelial cells. It plays a crucial role in tissue organization and barrier function. Mutations in PARD3B can lead to developmental disorders affecting tissue structure and integrity....

PDE3B (Phosphodiesterase 3B): PDE3B is important in regulating lipid and glucose metabolism. It plays a role in breaking down cyclic AMP, a messenger molecule, which affects processes like lipolysis and insulin secretion. It has implications in metabolic disorders such as obesity and diabetes....

PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha): PIK3C2A is part of the PI3K family, playing a role in cell signaling pathways that control cell growth and survival. It's involved in the regulation of membrane trafficking, insulin signaling, and cytoskeletal dynamics. Dysregulation of PIK3C2A can contribute to various diseases, including cancer and metabolic disorders....

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....

PLTP (Phospholipid Transfer Protein): PLTP, also known as phospholipid transfer protein, is a key player in lipid metabolism and lipid transport processes within the body. It facilitates the transfer of phospholipids, such as phosphatidylcholine and phosphatidylethanolamine, between different lipoprotein particles, thereby regulating their composition and metabolism. PLTP plays a crucial role in the maintenance of plasma lipoprotein homeostasis, influencing the size, composition, and functionality of various lipoprotein fractions, including high-density lipoproteins (HDL) and low-density lipoproteins (LDL). Its activity is essential for processes like reverse cholesterol transport, which removes excess cholesterol from peripheral tissues and delivers it to the liver for...

PON2 (Paraoxonase 2): PON2 encodes an enzyme that belongs to the paraoxonase family, which plays a role in detoxification and antioxidant defense. PON2 is involved in the protection against oxidative stress and lipid peroxidation, making it relevant in cardiovascular health and other oxidative stress-related conditions....

PPA2 (Inorganic Pyrophosphatase 2): PPA2 encodes an enzyme called inorganic pyrophosphatase, which catalyzes the hydrolysis of pyrophosphate (PPi) to inorganic phosphate (Pi). This enzymatic activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunctions in PPA2 may impact energy production and nucleotide metabolism....

RRAGC (Ras Related GTP Binding C): RRAGC is a member of the small GTPase family and plays a role in amino acid sensing and mTOR signaling. This gene is important for cellular growth, proliferation, and metabolic regulation. Dysregulation of RRAGC can impact cellular energy balance and has been linked to metabolic disorders....

SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter, primarily involved in the clearance of glutamate from the synaptic cleft. Its role is crucial in preventing excitotoxicity, a condition where excessive glutamate causes neuronal damage. While less studied than other glutamate transporters, SLC1A7 contributes to the regulation of glutamatergic signaling, with potential implications for neurological conditions characterized by dysregulated glutamate neurotransmission....

SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5, also known as OCTN2, is a crucial carnitine transporter, responsible for the cellular uptake of carnitine, a necessary compound for the transport of fatty acids into mitochondria for oxidation. This process is vital for energy production in various tissues, especially the heart and muscles. Mutations in the SLC22A5 gene can lead to primary carnitine deficiency, a condition characterized by muscle weakness and cardiomyopathy, underscoring its essential role in metabolic health and energy homeostasis....

SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a core component of the SWI/SNF chromatin remodeling complex, playing a pivotal role in regulating gene expression by altering chromatin structure. Mutations in SMARCA2 are associated with disorders like Nicolaides-Baraitser syndrome, characterized by intellectual disability and sparse hair. Its function is critical for proper gene regulation and development....

SOAT2 (Sterol O-Acyltransferase 2): SOAT2, a member of the sterol O-acyltransferase family, is a crucial enzyme involved in lipid metabolism, particularly in the esterification of cholesterol. This enzyme plays a significant role in the regulation of cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are stored in lipid droplets or incorporated into lipoproteins for transportation. SOAT2 is primarily expressed in tissues involved in lipid metabolism, such as the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cellular cholesterol levels, serving as a key mechanism to prevent cholesterol toxicity and maintain lipid homeostasis. Dysregulation...

STMN4 (Stathmin-Like 4): STMN4 is involved in microtubule dynamics and regulation. It plays a role in the organization of the cytoskeleton and may impact cellular processes such as cell division and intracellular transport....

TFPI2 (Tissue Factor Pathway Inhibitor 2): TFPI2, a critical component of the coagulation cascade, acts as a potent inhibitor of the tissue factor (TF)-mediated blood coagulation pathway. It plays a significant role in maintaining hemostatic balance by preventing excessive thrombosis and modulating fibrinolysis. Located in the extracellular matrix (ECM), TFPI2 is involved in various physiological processes beyond coagulation, including cell migration, proliferation, and angiogenesis, contributing to tissue repair and remodeling. The aberrant expression of TFPI2 has been associated with numerous pathological conditions, including cancer, where it may act as a tumor suppressor gene. Its downregulation in certain cancers has been...

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is involved in the regulation of metalloproteinases, which are enzymes that degrade extracellular matrix components. It plays a role in tissue remodeling and is important in processes like wound healing and angiogenesis....

VEGFC, or Vascular Endothelial Growth Factor C, is a crucial protein involved in the regulation of lymphangiogenesis, the formation of lymphatic vessels, and angiogenesis, the formation of blood vessels. As a member of the vascular endothelial growth factor (VEGF) family, VEGFC plays diverse roles in physiological and pathological processes, including embryonic development, tissue repair, and tumor progression. One of the primary functions of VEGFC is its ability to stimulate the growth and proliferation of lymphatic endothelial cells, promoting the formation and remodeling of lymphatic vessels. VEGFC binds to and activates its receptors, primarily VEGFR-3 (vascular endothelial growth factor receptor 3), initiating...

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, which are important components of the extracellular matrix. It adds xylose to specific serine residues in proteoglycans, a crucial step in the formation of connective tissues. Mutations in XYLT1 can lead to skeletal and connective tissue disorders, highlighting its role in tissue development and maintenance....

ZNF516 (Zinc Finger Protein 516): ZNF516 is a KRAB zinc finger protein, which suggests a role in DNA binding and transcriptional regulation. It's implicated in the regulation of cardiac genes and has been studied in relation to cardiovascular diseases. Dysregulation of ZNF516 may influence cardiac development and function, with potential implications for heart disease and heart failure....

ZNF584 (Zinc Finger Protein 584): ZNF584 is part of the zinc finger protein family, typically involved in DNA binding and gene regulation. While the specific functions of ZNF584 are not fully established, it may play a role in transcriptional regulation, impacting various cellular processes and potentially influencing developmental pathways or disease mechanisms....