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....

APEH

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

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....

JAK2

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

TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6): TRPM6 is a channel involved in magnesium absorption and homeostasis. It is essential for maintaining proper magnesium balance in the body, and mutations in TRPM6 can lead to hypomagnesemia with secondary hypocalcemia, a condition characterized by low levels of magnesium and calcium in the blood....

TRPM6

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....

BCL2

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....



NR4A2

PRXL2A (Peroxiredoxin-like 2A): PRXL2A is involved in the reduction of peroxide levels within cells, protecting them from oxidative stress. This enzyme plays a role in cell survival, proliferation, and stress response. Research on PRXL2A can offer insights into its contributions to aging, cancer, and diseases related to oxidative damage....


PRXL2A

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

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....



BHMT

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....

ARAP2

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....

ALDH7A1

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

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

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

TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene encoding a protein with E3 ubiquitin ligase activity, involved in protein degradation. It has been implicated in the Mulibrey nanism, a rare growth disorder. The study of TRIM37 is important in understanding growth and developmental disorders and the ubiquitin-proteasome system....


TRIM37

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

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

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

SERPINA1 (Serpin Family A Member 1): SERPINA1, also known as alpha-1-antitrypsin, is a major protease inhibitor, primarily produced in the liver, and plays a vital role in protecting the lungs from neutrophil elastase. Deficiency in SERPINA1 can lead to alpha-1 antitrypsin deficiency, a genetic disorder that causes lung diseases like emphysema and chronic obstructive pulmonary disease (COPD), as well as liver diseases. It is crucial in maintaining the balance of proteolytic activity in lung tissues....

SERPINA1

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

SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood....

SERPINB10

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a pseudokinase that modulates various signaling pathways involved in cell survival, metabolism, and stress responses. It acts as a regulator of cellular stress by modulating pathways related to the unfolded protein response and insulin signaling. Overexpression of TRIB3 has been linked to several conditions, including insulin resistance, cardiovascular diseases, and cancer, by influencing cell proliferation and apoptosis....

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

TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in various cellular processes, including cell proliferation and survival. It acts as a modulator of signaling pathways and has been implicated in cancer development, particularly in leukemias....

TRIB2

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

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

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

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

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....



BMPR1B

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....


SLC22A5

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....



SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a crucial role in cellular communication and the transport of substances within cells, which is vital for various cellular functions....

SCAMP1

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

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...

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...



NRBF2

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

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....

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....

MS4A13

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

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

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

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

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....


BHLHE41

SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It's predominantly found in the brain and is thought to have antioxidant properties. The exact role of SELENOM in neurological functions is not fully understood, but it may be involved in protecting neurons from oxidative stress, with implications for neurodegenerative diseases....

SELENOM

SEM1 (Semaphorin 1): SEM1, also known as 26S proteasome complex subunit DSS1, is involved in DNA repair and the regulation of protein degradation via the proteasome. It plays a role in maintaining cellular protein homeostasis and genomic integrity. SEM1's dysfunction can have implications in cancer and other diseases involving proteasome dysfunction....

SEM1

SEC62 (SEC62 Homolog, Preprotein Translocation Factor): SEC62 is a gene associated with protein translocation into the endoplasmic reticulum (ER). It likely plays a role in the import of proteins into the ER lumen, ensuring proper folding and processing of secretory and membrane proteins....

SEC62

TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene associated with a subunit of the trafficking protein particle (TRAPP) complex. This complex is involved in vesicle trafficking within cells, facilitating the movement of proteins and lipids between cellular compartments. TRAPPC9's role in vesicle trafficking is essential for maintaining cellular function and organization....

TRAPPC9

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....

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....


PPA2

SEC16B (SEC16 Homolog B): SEC16B is involved in the regulation of protein trafficking within cells, particularly in the endoplasmic reticulum (ER)-Golgi transport pathway. It plays a role in the secretion of proteins and has implications in cellular processes such as ER stress response and protein quality control....

SEC16B

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

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

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

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

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....

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...

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....


POM2

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

SEMA4B (Semaphorin 4B): SEMA4B is part of the semaphorin family, which is involved in axonal guidance in the nervous system. It plays a role in neural development and immune responses, and its dysregulation may be involved in neurological and immune disorders....

SEMA4B

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

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

rs6553050: This genetic marker, known as a single nucleotide polymorphism (SNP), is located in the human genome and is used in genetic studies to identify variations that may be associated with specific traits or diseases. The presence or absence of such SNPs can be linked to genetic predispositions to certain health conditions or responses to medications. rs6553050 is one of the many SNPs that researchers investigate to understand the complex interactions between genetics and health....


rs6553050

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....

PKD2L2

TPO (Thyroid Peroxidase): TPO encodes the thyroid peroxidase enzyme, which is crucial for thyroid hormone synthesis. It catalyzes the iodination and coupling of thyroid hormone precursors, ultimately leading to the production of thyroid hormones (T3 and T4). Dysregulation of TPO can result in thyroid disorders....

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

SEPHS1, also known as Selenophosphate synthetase 1, is a vital enzyme involved in the biosynthesis of selenoproteins, a class of proteins containing the amino acid selenocysteine (Sec). Positioned predominantly within the cytoplasm of cells, SEPHS1 plays a crucial role in selenium metabolism and the incorporation of selenocysteine into nascent selenoproteins. One of the primary functions of SEPHS1 is its involvement in the synthesis of selenophosphate, the activated form of selenium required for selenocysteine incorporation. As a selenophosphate synthetase, SEPHS1 catalyzes the conversion of selenide and ATP into selenophosphate, providing the essential precursor for selenocysteine tRNA (Sec-tRNA^[Ser]Sec) biosynthesis. Moreover, SEPHS1 is indispensable for...




SEPHS1

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....


PIK3C2A

MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments....

MC4R

RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a transcription factor involved in the regulation of gene expression. It plays a role in various cellular processes, including cell differentiation and immune response. Dysregulation of RUNX3 has been associated with cancer and developmental disorders....

RUNX3

RAD52 (RAD52 Homolog, DNA Repair Protein): RAD52 plays a pivotal role in the repair of DNA double-strand breaks, crucial for maintaining genomic stability. It is particularly involved in the homologous recombination repair pathway, which is important for the accurate repair of DNA during cell division. Defects in RAD52 can lead to genomic instability, increasing the risk for various cancers and contributing to the progression of certain inherited disorders....

RAD52

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

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....

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

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....


MYH15

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

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...


MYH6

SESN3 (Sestrin 3): SESN3 is part of the sestrin family of stress-responsive proteins and is involved in the regulation of cell growth and metabolism, particularly in response to cellular stress. It plays a role in antioxidant defense and has been linked to metabolic regulation, with implications for diseases like obesity and diabetes....

SESN3

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

MME, also known as Membrane Metallo-Endopeptidase, or neprilysin, is a zinc-dependent metalloprotease enzyme that plays a critical role in the regulation of peptide signaling molecules, particularly in the degradation of biologically active peptides. It is primarily found anchored to the cell membrane of various cell types, including neurons, endothelial cells, and immune cells. One of the primary functions of MME is its role in the degradation of peptides involved in the regulation of blood pressure, such as bradykinin and atrial natriuretic peptide (ANP). MME cleaves these peptides into inactive fragments, thereby regulating their physiological effects and maintaining blood pressure homeostasis. Additionally,...


MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A belongs to a family of proteins characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. The exact physiological and pathological roles of MROH2A are not well understood, but it may play a role in cellular lipid metabolism, with potential implications for metabolic disorders. Understanding the function of MROH2A could contribute to insights into metabolic regulation and disease mechanisms related to lipid metabolism....


MROH2A

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 

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....

XYLT1

MICAL2 (Molecule Interacting with CasL 2): MICAL2 is a member of the MICAL family of enzymes, which are known for their role in cytoskeletal dynamics through the oxidation of actin. This enzyme contributes to the regulation of actin filament disassembly, influencing cell shape, migration, and intracellular transport. MICAL2's function is crucial in various cellular processes, including neurite outgrowth, axon guidance, and the regulation of synaptic and vascular structures. By modulating the cytoskeleton, MICAL2 plays a key role in cell communication, differentiation, and movement. Dysregulation of MICAL2 has been linked to cancer progression, neurological disorders, and vascular diseases, highlighting its significance...


MICAL2

APCS (Amyloid P Component, Serum): APCS is a critical component of the innate immune system, playing a role in the response to infection and injury. It binds to pathogens and damaged cells, facilitating their removal. APCS is also involved in the formation of amyloid plaques, linking it to conditions like Alzheimer's disease. Its function in modulating immune responses and inflammation makes it a target for therapeutic research....

APCS

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

TMEM243 (Transmembrane Protein 243): The function of TMEM243 is not well characterized. It is a transmembrane protein, and like many such proteins, it may be involved in cellular signaling or transport processes....

TMEM243

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

TMEM72 (Transmembrane Protein 72): TMEM72 is a less characterized transmembrane protein. Its specific role in cellular processes and potential implications in human diseases are subjects of ongoing research. Transmembrane proteins like TMEM72 often play roles in cellular signaling, transport, and communication, making them significant in various physiological and pathological processes....

TMEM72

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

TNFAIP3 (TNF Alpha Induced Protein 3): Also known as A20, TNFAIP3 is a critical negative regulator of NF-kB signaling and plays a pivotal role in controlling inflammation and immune responses. It acts by ubiquitinating signaling molecules to terminate NF-kB activation, thus preventing prolonged inflammatory responses that can lead to autoimmune diseases. Mutations or dysregulation of TNFAIP3 are associated with several autoimmune and inflammatory diseases, making it a key target for therapeutic research....

TNFAIP3 

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

OR10J5 (Olfactory Receptor 10J5): OR10J5 belongs to the family of olfactory receptors, which are crucial for the sense of smell. This gene encodes receptors that detect specific odor molecules, contributing to the vast array of scent perceptions. Research into this receptor not only enhances our understanding of olfaction but may also provide insights into the development of new sensory-related technologies and fragrance design....

OR10J5

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....


PAPSS2

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, known for its role in processing various proteins involved in physiological and pathological processes. This enzyme is localized on the cell surface, where it participates in the activation of proteins by cleaving peptide bonds. TMPRSS4 has been implicated in several critical biological pathways, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is pivotal in development, wound healing, and cancer metastasis. Its overexpression is associated with the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis, as...

TMPRSS4

MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is part of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It's important for the production of proteins that are part of the mitochondrial respiratory chain. Dysfunctions in MRPS18C can affect mitochondrial function and energy metabolism, potentially leading to mitochondrial disorders....

MRPS18C

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....

PAPPA

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

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SERPINA1

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