TRMO (tRNA Methyltransferase 10 Homolog A): TRMO is a gene involved in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. tRNA modifications are essential for accurate protein synthesis during translation....

TRMO

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is involved in various cellular processes, including stress response, cell proliferation, and metabolism. It acts as a modulator of signaling pathways and has been implicated in the development of conditions such as insulin resistance, cancer, and cardiovascular diseases....

TRIB3

TSPAN5 (Tetraspanin 5): TSPAN5 is part of the tetraspanin family, known for their roles in cell signaling, adhesion, and migration. Tetraspanins are involved in the organization of various cellular processes and are important in the development and function of the immune system and in cancer metastasis. TSPAN5, in particular, may play a role in neural development and synaptic function, but its specific functions and implications in human health and disease are still being explored....


TSPAN5

TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is associated with the translocator protein (TSPO), involved in mitochondrial function and steroidogenesis. It plays a role in regulating cholesterol transport and mitochondrial respiration. While its specific functions are still being elucidated, TSPOAP1's association with mitochondrial activity suggests its importance in cellular energy metabolism and the potential impact on neurodegenerative diseases and mood disorders....



TSPOAP1

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE encodes an enzyme responsible for the degradation of thyrotropin-releasing hormone, which is important in regulating the thyroid axis. It plays a role in maintaining hormonal balance and has implications in metabolic processes and mood regulation....

TRHDE

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that belongs to the Tweety family of proteins. While the exact functions of TTYH2 are not fully elucidated, it is known to encode a protein with ion channel activity. The Tweety family of proteins has been associated with ion transport across cell membranes, particularly involving chloride ions. These ion channels are thought to play a role in cellular homeostasis and may be involved in processes such as regulation of cell volume and ion balance. Further research is needed to fully understand the specific functions and significance of TTYH2 in cellular physiology and potential...


TTYH2

TRMT6, also known as tRNA methyltransferase 6 homolog, is an enzyme involved in the post-transcriptional modification of transfer RNA (tRNA). Specifically, TRMT6 belongs to the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and catalyzes the methylation of specific nucleotides within tRNA molecules. One of the primary functions of TRMT6 is its role in the modification of adenosine residues at the wobble position of certain tRNA molecules. This modification is crucial for ensuring accurate and efficient translation of mRNA into protein during the process of protein synthesis. Methylation at the wobble position of tRNA helps stabilize codon-anticodon interactions and contributes to the fidelity...

TRMT6

NCOR1, also known as Nuclear Receptor Corepressor 1, is a critical regulator of gene expression and transcriptional repression. Positioned predominantly within the nucleus of cells, NCOR1 plays a pivotal role in modulating the activity of nuclear receptors and other transcription factors. One of the primary functions of NCOR1 is to act as a corepressor for various nuclear receptors, including thyroid hormone receptors (TRs), retinoic acid receptors (RARs), and peroxisome proliferator-activated receptors (PPARs). By recruiting histone deacetylases (HDACs) and other chromatin-modifying enzymes to target gene promoters, NCOR1 facilitates the formation of repressive chromatin structures, leading to transcriptional silencing. Moreover, NCOR1 is involved in...

NCOR1 

TTC6 (Tetratricopeptide Repeat Domain 6): TTC6 encodes a protein with tetratricopeptide repeat domains, known for mediating protein-protein interactions. It's involved in various cellular processes, such as protein trafficking and signaling pathways. The exact functions of TTC6 in human physiology are still being explored....

TTC6

TREH (Trehalase): TREH encodes the enzyme trehalase, which is involved in the hydrolysis of trehalose, a disaccharide sugar. Trehalase is important for carbohydrate metabolism, particularly in the gut where trehalose is broken down. Deficiencies in trehalase activity can lead to trehalose intolerance, characterized by gastrointestinal symptoms following trehalose ingestion....

TREH

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....

FAM227B

FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a lesser-known gene with limited information available. Genes in the FAM216 family are believed to be involved in diverse cellular processes, but the specific function and role of FAM216B in human health and disease are not well characterized....

FAM216B

TRAPPC14 (Trafficking Protein Particle Complex 14): TRAPPC14 is a component of the TRAPP (Trafficking Protein Particle) complex, which plays a vital role in vesicular transport processes within cells. This protein is involved in the regulation of trafficking between various membranous organelles, including the endoplasmic reticulum, Golgi apparatus, and endosomes. TRAPPC14 functions as part of the machinery that ensures the precise delivery of cargo proteins and lipids across different cellular compartments, critical for maintaining cellular homeostasis and function. Its role is particularly important in the context of protein secretion, membrane biogenesis, and the maintenance of organelle integrity. Dysregulation or genetic mutations...

TRAPPC14

TUB (Tubby Bipartite Transcription Factor): The TUB gene encodes the Tubby bipartite transcription factor, which is involved in the regulation of appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is particularly significant in the study of metabolic disorders and eye diseases, providing insights into the genetic components of obesity and vision problems....

FAM240C (Family With Sequence Similarity 240 Member C): FAM240C is a less characterized gene, with its function still being elucidated. Like other family members, it may play a role in cellular processes such as cell division or signal transduction....

FAM240C

TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is considered a tumor suppressor gene and is involved in the regulation of cell growth and apoptosis. It has been studied in relation to various cancers, with its reduced expression often observed in malignant tissues, suggesting its protective role against cancer development....

TUSC1

NEBL (Nebulette): NEBL is a cardiac-specific actin-binding protein, crucial for the structural integrity and function of cardiac muscle cells. It plays a significant role in the organization of the actin cytoskeleton, affecting heart muscle contraction and cardiac performance. Mutations in NEBL are associated with cardiomyopathies, indicating its critical role in maintaining cardiac muscle structure and function....

NEBL

TRAF5 (TNF Receptor-Associated Factor 5): TRAF5 is a member of the TRAF protein family, which mediates signal transduction from various receptors, including TNF receptors and Toll-like receptors, playing a key role in immune and inflammatory responses. TRAF5 is involved in NF-kB activation, a pathway essential for immune regulation, cell survival, and differentiation. Dysregulation of TRAF5 can contribute to autoimmune diseases, making it a potential target for therapeutic intervention in immune disorders....

TRAF5

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...

NECTIN2

NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11): NDUFA11 is a component of the mitochondrial complex I, the largest and first enzyme complex in the mitochondrial electron transport chain (ETC), crucial for cellular energy production. It plays a vital role in the assembly, stability, and function of complex I, facilitating the transfer of electrons from NADH to ubiquinone, thereby contributing to the generation of the proton gradient used to produce ATP through oxidative phosphorylation. Given its essential role in cellular metabolism and energy production, dysfunctions or mutations in NDUFA11 can lead to mitochondrial diseases and contribute to a range of metabolic and degenerative...

NDUFA11

TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is crucial in embryonic development, particularly in mesenchymal cell lineage determination. It plays a role in craniofacial development and is implicated in Saethre-Chotzen syndrome, a congenital disorder characterized by craniosynostosis....




TWIST1

TPSB2 (Tryptase Beta 2): TPSB2 encodes a member of the serine protease family, specifically a type of tryptase. Tryptases are involved in allergic responses and are found in mast cells. They play a role in inflammation and immune response, and elevated levels of tryptase are associated with allergic reactions and certain mast cell-related disorders....

TPSB2

NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase): NEDD4L is crucial in regulating ion transport and cellular signaling pathways. It's known for its role in hypertension and cardiovascular diseases, as it affects sodium and water balance in the body. This gene's function in homeostasis makes it a key player in understanding various health conditions....


NEDD4L

NEO1 (Neogenin 1): Neogenin 1 is a critical cell surface receptor implicated in various cellular processes including cell adhesion, migration, and axon guidance. It belongs to the immunoglobulin superfamily and plays a pivotal role in the development of the nervous system and the regulation of apoptosis. NEO1 acts as a receptor for netrin-1 and other ligands, guiding axonal growth and neuronal migration essential for brain development. Additionally, it is involved in the maintenance of tissue homeostasis and vascular development. Mutations or dysregulation of NEO1 have been associated with a range of developmental disorders and diseases, including cancer progression and metastasis....


NEO1

TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and is involved in transcriptional regulation. It has been studied in relation to breast cancer risk, as genetic variants in TOX3 have been associated with an increased risk of developing breast cancer....


TOX3

NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a natural cytotoxicity receptor expressed on NK cells and certain T cells. NCR3 is involved in the recognition and targeting of infected or abnormal cells for destruction. It plays a role in the innate immune response against viruses and tumor cells....

NCR3

FBOX21 (F-Box Protein 21): FBOX21 is part of the F-box family of proteins, which play critical roles in the ubiquitin-proteasome system for protein degradation. This system is vital for regulating protein levels within the cell, affecting numerous cellular processes such as cell cycle progression, signal transduction, and apoptosis. FBOX21 specifically is involved in targeting proteins for degradation, thereby maintaining cellular homeostasis. Dysregulation of FBOX21 can lead to various diseases, including cancers, where aberrant protein accumulation or degradation contributes to disease pathogenesis....

FBOX21

NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule prominently expressed in the central nervous system, playing a pivotal role in neuronal growth, differentiation, and synaptic plasticity. It is involved in the formation and maintenance of neuronal networks, contributing to cognitive functions such as learning and memory. NEGR1 functions as a mediator of cell-cell interactions, facilitating communication between neurons and supporting neural tissue structure. Its expression patterns and functional implications in neurodevelopment suggest a critical role in brain development and the pathophysiology of neurological disorders. Dysregulation or mutations in NEGR1 have been associated with neurodevelopmental disorders, obesity, and...

NEGR1

NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor important in the regulation of genes involved in erythropoiesis, the process of red blood cell production. It plays a key role in the development and maturation of erythroid cells. Mutations or alterations in NFE2 can lead to blood disorders, particularly affecting red blood cell production....


NFE2

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...

TNR (Tenascin R): TNR is an extracellular matrix protein predominantly found in the central nervous system. It is involved in neural development, particularly in synaptic plasticity and neuronal differentiation. TNR plays a role in the formation of neural networks and has been studied in the context of neurodevelopmental and neurodegenerative disorders....

NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is involved in cell growth and differentiation and has been identified as a tumor suppressor gene. It is involved in stress responses and the inhibition of cell proliferation and is particularly noted for its role in brain and nervous system development. Dysregulation of NDRG2 is associated with several types of cancer. ...

NDRG2

CAPS (Calcium-Activated Protease Substrate): CAPS, known for its role as a substrate for calcium-activated proteases, plays a crucial part in cellular processes that are regulated by intracellular calcium levels. These processes include cell migration, division, and apoptosis, which are fundamental for tissue development and repair. CAPS is involved in the modulation of cytoskeletal dynamics and cell adhesion, mechanisms vital for the proper function and structural integrity of cells. The precise regulation of CAPS by calcium signaling underscores its importance in maintaining cellular homeostasis and responding to physiological and pathological stimuli. Dysregulation of CAPS can contribute to various disease states, including...


CAPS

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): Also known as TRAIL, TNFSF10 is involved in inducing apoptosis in tumor cells. It plays a role in immune surveillance and cancer therapy, as it can selectively induce cell death in cancer cells while sparing normal cells. This gene is a focus in cancer research for its potential therapeutic applications....

TNFSF10

NFIA, or Nuclear Factor I A, is a transcription factor that plays crucial roles in the regulation of gene expression, cellular differentiation, and development. Positioned predominantly within the nucleus of cells, NFIA belongs to the Nuclear Factor I (NFI) family, which consists of highly conserved DNA-binding proteins involved in the transcriptional control of various genes. One of the primary functions of NFIA is its involvement in the regulation of gene expression through binding to specific DNA sequences, known as NFIA recognition elements, within the promoter regions of target genes. By interacting with transcriptional co-regulators and chromatin-modifying enzymes, NFIA can either activate...


NFIA

NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a critical regulator of the NF-kappa-B pathway, which is involved in immune responses, inflammation, and cell survival. It acts by inhibiting NF-kappa-B activity, thereby modulating the expression of genes involved in immune and inflammatory responses. Dysregulation of NFKBIE has been linked to autoimmune diseases, chronic inflammatory conditions, and cancer, highlighting its role in immune regulation and disease pathogenesis....


NFKBIE

TMEM245 (Transmembrane Protein 245): TMEM245 is a transmembrane protein with currently unclear functions. It may be involved in cellular processes associated with membrane dynamics or intracellular trafficking, but its specific role in cellular physiology and potential involvement in disease states require further investigation....

TMEM245

NIPSNAP3A (Nipsnap Homolog 3A): NIPSNAP3A is part of a gene family that is implicated in intracellular trafficking and mitochondrial function. Its exact role is not fully understood, but it is thought to be involved in cellular metabolism and energy production. Studying NIPSNAP3A can provide insights into mitochondrial function and metabolic disorders....


NIPSNAP3A

TTC39C (Tetratricopeptide Repeat Domain 39C): TTC39C is part of the tetratricopeptide repeat protein family, which is involved in various cellular processes, including the regulation of cholesterol metabolism and transport. Its role is less well characterized but is being studied for potential implications in lipid homeostasis and associated metabolic disorders, such as obesity and cardiovascular disease....




TTC39C

NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene encoding a transcription factor that is important for gastrointestinal development and homeostasis. It regulates the expression of genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases....


NKX2-3

NKX2-1, also known as thyroid transcription factor 1 (TTF-1), is a protein that functions as a transcription factor, meaning it regulates the expression of genes by binding to specific DNA sequences. It is a member of the NKX family of homeodomain-containing transcription factors and plays a critical role in the development and function of several organs, particularly the thyroid, lung, and brain. One of the primary functions of NKX2-1 is its role in the development of the thyroid gland. NKX2-1 is expressed in the thyroid primordium during embryonic development and is essential for the specification and differentiation of thyroid follicular cells....


NKX2-1

TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its precise functions and roles in cellular processes are not fully characterized, transmembrane proteins are often involved in cell signaling, transport of molecules across cell membranes, and cellular communication. Further research is needed to uncover the specific functions of TMEM171 in cellular biology....

TMEM171

NKAIN3 (Na+/K+ Transporting ATPase Interacting 3): NKAIN3 is involved in the regulation of the Na+/K+ ATPase, which is essential for maintaining ion gradients across cell membranes. Its role is important for neuronal function, particularly in regulating neuronal excitability and signal transmission. Dysfunctions in NKAIN3 could affect neural signaling and have implications for neurological disorders....

NKAIN3

TUFM (Tu Translation Elongation Factor, Mitochondrial): TUFM is essential for mitochondrial protein synthesis, playing a role in the translation process within mitochondria. It's important for mitochondrial function and energy production, with potential implications in mitochondrial disorders and conditions related to impaired energy metabolism....




TUFM

NLGN1 (Neuroligin 1): Neuroligin 1, encoded by NLGN1, is a key player in the formation and modulation of synapses in the nervous system. It is crucial for synaptic specialization and the regulation of synaptic strength, impacting learning, memory, and overall brain function. NLGN1 has been a focus in the study of autism spectrum disorders and other neurodevelopmental conditions, given its critical role in synaptic development and plasticity....


NLGN1

ACKR2 (Atypical Chemokine Receptor 2): Also known as D6, ACKR2 is an atypical chemokine receptor that does not signal in the conventional manner but instead acts to scavenge chemokines from the environment. This function is critical in regulating inflammatory responses and maintaining immune homeostasis. ACKR2's role in clearing chemokines makes it important in controlling the spread of inflammation and has been implicated in various inflammatory diseases, including asthma, psoriasis, and cancer....

ACKR2

TBX3 (T-Box Transcription Factor 3): TBX3 is a critical transcription factor involved in embryonic development, playing roles in the regulation of organogenesis, including limb, heart, and mammary gland development. Mutations or dysregulation of TBX3 can lead to developmental disorders, such as ulnar-mammary syndrome. TBX3 is also implicated in cancer development, where it can act as a transcriptional repressor to inhibit cell senescence and promote proliferation....

TBX3

TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research....




TRIB1

TXLNA (Taxilin Alpha): TXLNA is involved in vesicle trafficking, protein transport, and possibly in the regulation of exocytosis. It interacts with various proteins, playing a role in the organization of intracellular transport systems. TXLNA's function in cellular logistics is important for maintaining cell homeostasis and may have implications for neurodegenerative diseases and disorders affecting protein transport and secretion....

TXLNA

NLRC5 (NOD-Like Receptor C5): NLRC5 is a member of the NOD-like receptor family and plays a crucial role in the immune system. It is involved in the regulation of MHC class I genes, which are essential for the immune system's ability to recognize and respond to pathogens. Abnormalities in NLRC5 function can lead to immune system dysregulation and have been associated with various autoimmune disorders....


NLRC5

CBS (Cystathionine beta-synthase): CBS, an enzyme crucial for sulfur metabolism, plays a vital role in synthesizing cysteine from homocysteine. This process is essential for the production of glutathione, an antioxidant crucial for cellular defense against oxidative stress. Additionally, CBS is involved in the transsulfuration pathway, which regulates the levels of sulfur-containing amino acids and hydrogen sulfide, a signaling molecule with various physiological functions. Proper functioning of CBS is critical for maintaining cellular redox balance, modulating vascular tone, and regulating neurotransmitter synthesis. Dysregulation of CBS activity is associated with several metabolic disorders, including homocystinuria and cardiovascular diseases. Understanding the intricate mechanisms...

NELL1 (NEL Like 1): NELL1 is a protein involved in bone and cartilage growth and regeneration. It's significant in skeletal development and has been implicated in osteochondral diseases and in promoting bone healing. The study of NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries....

NELL1

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator): RALGDS is a guanine nucleotide exchange factor important in signal transduction pathways. It activates Ral GTPases, playing a role in cell growth and differentiation. Alterations in RALGDS function have been linked to cancer development and progression....

RALGDS

NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a key role in the immune response. It is activated in T cells in response to signals that increase intracellular calcium levels, leading to its translocation to the nucleus where it can influence the expression of genes involved in T cell activation and differentiation. NFATC2 is crucial for the development of the immune system and the regulation of immune responses. Dysregulation of NFATC2 has been associated with autoimmune diseases and immunodeficiency....



NFATC2

NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that catalyzes the phosphorylation of nicotinamide riboside to nicotinamide mononucleotide, a key step in the NAD+ biosynthesis pathway. NAD+ is essential for energy metabolism, DNA repair, and cellular signaling. NMRK1's role in NAD+ biosynthesis makes it important for maintaining cellular energy balance and genomic stability, with implications for aging, metabolic disorders, and diseases associated with NAD+ depletion....


NMRK1

TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor involved in the regulation of growth and development of bone, hair, and connective tissue. Mutations in TRPS1 cause Tricho-Rhino-Phalangeal syndrome, characterized by craniofacial and skeletal abnormalities. Understanding TRPS1's function helps in diagnosing and managing this syndrome, with research focused on elucidating its role in tissue development and differentiation....

TRPS1

NNMT (Nicotinamide N-Methyltransferase): NNMT encodes an enzyme that methylates nicotinamide (vitamin B3) and is involved in the regulation of cellular metabolism and energy balance. NNMT's activity has been linked to obesity, metabolic disorders, and cancer, making it a target for therapeutic interventions....


NNMT

NOS1 (Nitric Oxide Synthase 1): NOS1 generates nitric oxide (NO), a critical signaling molecule involved in neurotransmission, vascular tone regulation, and immune response. It plays a significant role in the nervous system by modulating neuronal communication and plasticity. Dysregulation of NOS1 is implicated in neurological disorders, cardiovascular diseases, and inflammatory conditions, underlining its importance in cellular signaling and disease pathogenesis....


NOS1


MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1, also known as MASL1, is implicated in immune responses and inflammation. It has been studied in the context of malignant fibrous histiocytoma, a type of cancer. This gene is thought to play a role in tumorigenesis and immune regulation....

MFHAS1

RAD9A (RAD9 Homolog A): RAD9A is involved in DNA repair and cell cycle checkpoint control. It plays a role in maintaining genomic stability and preventing the proliferation of damaged cells. Dysregulation of RAD9A can impact DNA repair processes and contribute to genomic instability....

RAD9A

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme responsible for catalyzing the methylation of cytosine at position 38 in tRNA molecules. This post-transcriptional modification, known as 5-methylcytosine (m5C), is essential for the stability and proper function of tRNA. Methylation of cytosine at position 38 contributes to tRNA folding, stability, and accurate codon recognition during translation. TRDMT1-mediated tRNA methylation plays crucial roles in various cellular processes, including protein synthesis, regulation of gene expression, and cellular stress responses. Dysregulation of TRDMT1 activity or tRNA methylation has been implicated in several human diseases, including cancer, neurodegenerative disorders, and developmental abnormalities. Additionally, TRDMT1 has been shown...


TRDMT1

NOS3 (Nitric Oxide Synthase 3): NOS3 is responsible for the production of nitric oxide (NO) in blood vessels, playing a key role in vascular endothelial function. It regulates vasodilation, blood pressure, and has anti-atherosclerotic properties. Variations in NOS3 are associated with cardiovascular disease risks, including hypertension and coronary artery disease....


NOS3

FMN2 (Formin 2): FMN2 is involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a significant role in cell division, movement, and morphogenesis, contributing to the structural integrity and dynamics of the cytoskeleton. FMN2's function is crucial during cell division and in the development of the nervous system, with mutations affecting sperm motility and potentially leading to infertility or developmental disorders....


FMN2

TTN (Titin): TTN is one of the largest known proteins in the human body, primarily found in muscle tissues. It plays a crucial role in muscle contraction and elasticity. TTN acts as a molecular spring, providing structural support to muscle fibers and allowing them to contract and relax efficiently. Mutations in the TTN gene have been associated with various muscle-related disorders, including muscular dystrophy and cardiomyopathy....

MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5, part of the MAP kinase signaling cascade, is involved in transmitting signals from the cell surface to the nucleus, affecting various cellular responses such as inflammation and immune reactions. It plays a role in stress responses and has been implicated in immune system regulation and potentially in autoimmune diseases....


MAP4K5

MAP7 (Microtubule-Associated Protein 7): MAP7 is involved in microtubule stabilization and interacts with motor proteins, influencing cell movement and organization. It plays a role in various cellular processes including mitosis and intracellular transport. Its function is crucial for maintaining cellular structure and dynamics....


MAP7

TBX20 (T-Box 20): TBX20 is a transcription factor involved in heart development and function. It plays a critical role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are associated with congenital heart defects and cardiomyopathies....

TBX20

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to synthesize new nucleotides. Its role in nucleotide metabolism suggests it could be important for cell proliferation and DNA repair processes. Alterations in the purine salvage pathway can affect cellular energy balance and genomic stability, with potential implications for metabolic disorders and susceptibility to DNA damage....


PRTFDC1

NTM (Neurotrimin): NTM is a neural cell adhesion molecule that contributes to the formation of neural networks. It plays a role in neural development, particularly in neurite outgrowth and synaptic plasticity. Research into NTM is important for understanding the mechanisms underlying neural development and for investigating its potential involvement in neurodevelopmental disorders....


PRSS16 (Serine Protease 16): PRSS16 encodes a serine protease enzyme that is involved in protein digestion and the breakdown of dietary proteins in the digestive system. Serine proteases like PRSS16 are essential for the digestion of proteins in the stomach and small intestine. They play a critical role in breaking down proteins into smaller peptides and amino acids, which can then be absorbed and utilized by the body. ...


PRSS16

TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is involved in the metabolism and transport of vitamin E within cells. It plays a role in antioxidant defense and cell signaling, and is important for maintaining the integrity of the nervous system and other vitamin E-sensitive pathways in the body....




TPGS2

NTN5 (Netrin 5): NTN5 is part of the netrin family, which are crucial for neural development, especially in guiding axon growth. This gene's role is less studied compared to other netrins, but it is believed to have significant implications in the development of the nervous system and possibly in neurodegenerative diseases....


NTN5

LMNB1 (Lamin B1): LMNB1 encodes Lamin B1, a component of the nuclear lamina, a fibrous layer underlying the inner nuclear membrane that provides structural support to the nucleus. Lamin B1 is involved in DNA replication, chromatin organization, and the regulation of gene expression. Mutations or alterations in LMNB1 expression have been linked to a variety of developmental disorders and diseases, including laminopathies, which affect muscle, fat, and bone tissue, and premature aging syndromes....

LMNB1

MAPT (Microtubule Associated Protein Tau): MAPT encodes the tau protein, which stabilizes microtubules in neurons. Abnormal aggregation of tau is a hallmark of neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia, making it a key focus in neurodegenerative research....


MAPT

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor involved in signaling pathways such as Wnt signaling. It plays a role in tissue development and homeostasis. LGR4 has been studied in the context of stem cell biology and organ regeneration....

LGR4

PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene involved in chromatin organization and gene regulation. The PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B could potentially be linked to developmental disorders and cancers, given its role in gene expression regulation....




PWWP3B

NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor for neurotensin, a neurotransmitter involved in various central nervous system functions, including analgesia, thermoregulation, and modulation of dopamine signaling. NTSR2's activation by neurotensin influences neural activity and has been implicated in the pathophysiology of psychiatric disorders, making it a potential target for the treatment of schizophrenia, mood disorders, and pain management....


NTSR2

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 encodes a protein associated with the nuclear envelope and is involved in nuclear structure and organization. Mutations in LEMD3 have been linked to the rare genetic disorder known as Buschke-Ollendorff syndrome, which affects bone and skin....

LEMD3

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor found on the surface of macrophages, playing a role in the immune system's response to pathogens and particulate matter. It's involved in the recognition and clearance of bacteria and environmental particles, contributing to innate immunity and inflammation regulation....


MARCO

TRIM63 (Tripartite Motif Containing 63): TRIM63, also known as MuRF1, is involved in muscle protein degradation, particularly during muscle atrophy. It targets specific muscle proteins for ubiquitination and subsequent degradation in the proteasome. TRIM63 is important in conditions of muscle wasting such as cachexia, sarcopenia, and heart failure. Understanding its role could aid in developing therapies for muscle-wasting diseases....




TRIM63

TRIM33 (Tripartite Motif Containing 33): TRIM33 is an E3 ubiquitin ligase involved in transcriptional regulation and DNA repair. It plays a role in chromatin remodeling and has been implicated in the regulation of stem cell differentiation and in the suppression of tumorigenesis....

TRIM33

SHROOM3 (Shroom Family Member 3): SHROOM3 is a crucial regulator of cell morphology and architecture, playing a significant role in the development of cellular structures essential for tissue organization and function. It is particularly important in actin cytoskeleton dynamics, affecting processes such as cell shape, migration, and polarity. Dysregulation of SHROOM3 has been linked to kidney disease and fibrosis, as well as contributing to cancer progression by facilitating tumor cell invasion and metastasis. Its role in cell architecture underscores its importance in both development and disease....


SHROOM3

PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is involved in the planar cell polarity pathway, which coordinates the orientation of cells in the plane of a tissue. Mutations in PRICKLE1 are associated with epilepsy and neurodevelopmental disorders, reflecting its role in neural development and function....


PRICKLE1

MAT1A (Methionine Adenosyltransferase I, Alpha) is essential for the synthesis of S-adenosylmethionine (SAMe), a major methyl donor involved in numerous metabolic processes. This enzyme's activity is critical for methionine metabolism and regulates gene expression, cell proliferation, and the detoxification process. MAT1A dysfunction can lead to liver diseases such as cirrhosis and hepatocellular carcinoma. Understanding MAT1A's role highlights its importance in liver health, potential diagnostic markers, and therapeutic targets for liver disorders....


MAT1A

TNKS (Tankyrase): TNKS encodes a poly(ADP-ribose) polymerase that is involved in multiple cellular processes, including regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a crucial role in cellular proliferation and survival. TNKS has been studied in the context of cancer therapy, given its role in promoting tumor growth....

TNKS

CCK (Cholecystokinin): CCK is a gene that encodes cholecystokinin, a peptide hormone involved in digestion and appetite regulation. CCK stimulates the release of digestive enzymes and the contraction of the gallbladder. It also acts as a satiety signal in the brain, influencing food intake....

PRELID1 (Prelamin A-Related Integral Membrane Protein 1): PRELID1 is a gene associated with nuclear envelope biology. It plays a role in the processing of prelamin A, a precursor protein to lamin A. Lamin A is a structural component of the nuclear envelope and is essential for maintaining nuclear structure and integrity. Alterations in PRELID1 may impact nuclear organization and function, leading to potential cellular consequences....

PRELID1

NUDT12 (Nudix Hydrolase 12): NUDT12 is an enzyme that hydrolyzes oxidized nucleotides, preventing their incorporation into DNA and RNA, thus protecting cells from oxidative damage. It plays a role in maintaining genomic integrity and cellular redox balance....


NUDT12

NUAK1 (NUAK Family SnF1-Like Kinase 1): NUAK1 encodes a protein kinase with diverse cellular functions, including cell cycle regulation and energy metabolism. Its involvement in cellular processes related to cell growth, migration, and survival makes it a multifaceted player in cell biology. Further exploration of NUAK1's functions may provide insights into cancer progression and metabolic disorders....



NUAK1

UBE2V2 (Ubiquitin-Conjugating Enzyme E2 Variant 2): UBE2V2 is involved in the ubiquitin-proteasome system, a highly regulated pathway responsible for protein degradation and turnover. UBE2V2 participates in the conjugation of ubiquitin molecules to target proteins, marking them for degradation, thereby influencing cellular processes, protein stability, and response to cellular stress...

UBE2V2

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

LAX1

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial biology, specifically in the process of protein import into the mitochondria. As a component of the TOM complex, TOMM40 facilitates the translocation of nuclear-encoded proteins across the outer mitochondrial membrane, where they can fulfill various essential functions within the mitochondria. This protein is particularly notable for its association with Alzheimer's disease, as certain variants of TOMM40 have been implicated in modulating the risk and age of onset of the disease. Beyond Alzheimer's, TOMM40 has been implicated in other neurodegenerative disorders and age-related cognitive decline, underscoring...

TOMM40

MAPRE1 (Microtubule-Associated Protein, RP/EB Family, Member 1): MAPRE1, also known as EB1, is involved in the stabilization and regulation of microtubules, crucial components of the cell's cytoskeleton. It plays a key role in cell division and chromosome segregation and is important in neuronal development and cancer biology....



MAPRE1

MCFD2 (Multiple Coagulation Factor Deficiency 2): MCFD2 is a key component of the complex responsible for the transport and proper folding of coagulation factors V and VIII, which are essential for blood clotting. Mutations in MCFD2 cause combined factor V and VIII deficiency, a rare bleeding disorder. This highlights the critical role of protein transport and folding mechanisms in hemostasis and the impact of their dysregulation on blood clotting disorders....


MCFD2

L3MBTL1 (Lethal(3) Malignant Brain Tumor-Like 1): L3MBTL1 is thought to be involved in chromatin organization and regulation of gene expression. It has been implicated in the repression of target genes and is of interest in cancer research, particularly in relation to its potential role in tumor suppression....

L3MBTL1

TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors, playing a key role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and apoptosis. It has distinct roles in embryonic development, stem cell maintenance, and tumorigenesis. Mutations in TP63 can lead to a range of developmental disorders and have been implicated in cancer. Studies aim to understand TP63's dual roles in normal cellular functions and disease states....

TP63

UBE3A (Ubiquitin Protein Ligase E3A): UBE3A encodes an E3 ubiquitin ligase enzyme that plays a role in protein degradation via the ubiquitin-proteasome pathway. Mutations in UBE3A are associated with Angelman syndrome, a neurodevelopmental disorder characterized by intellectual disability and developmental delay....

UBE3A

TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11B): TNFRSF11B, also known as osteoprotegerin, is a key regulator of bone metabolism. It acts as a decoy receptor for RANKL, inhibiting osteoclastogenesis and preventing bone resorption. It plays a critical role in bone density and strength, and alterations in its function are linked to osteoporosis and other bone diseases....

TNFRSF11B

MCPH1 (Microcephalin 1): MCPH1 is crucial for brain development, particularly in regulating brain size. It's involved in DNA damage response and cell cycle regulation. Mutations in this gene can lead to microcephaly, a condition characterized by a smaller than normal brain, demonstrating its vital role in neurodevelopment....


MCPH1

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rs6553050

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