NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that plays a crucial role in the NAD+ biosynthesis pathway by catalyzing the conversion of nicotinamide riboside into nicotinamide mononucleotide. NAD+ is vital for energy metabolism, DNA repair, and cellular signaling. Through its involvement in NAD+ production, NMRK1 is important for maintaining cellular energy balance and genomic stability, with implications for aging, metabolic disorders, and conditions associated with NAD+ depletion.

NMRK1

TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. Although its specific functions are not yet fully known, transmembrane proteins typically play key roles in cell signaling, molecule transport across membranes, and cellular communication. Additional research is necessary to determine the exact functions of TMEM171 in cellular processes.

TMEM171

MME, also known as Membrane Metallo-Endopeptidase or neprilysin, is a zinc-dependent metalloprotease enzyme that plays a crucial role in regulating peptide signaling molecules. It is primarily found on the cell membranes of various cell types, including neurons, endothelial cells, and immune cells. MME is especially important for breaking down peptides involved in blood pressure regulation, such as bradykinin and atrial natriuretic peptide (ANP), converting them into inactive fragments and helping maintain cardiovascular balance.

MITF (Melanocyte Inducing Transcription Factor): MITF is a key regulator that highlights its role in the development and function of melanocytes, the cells responsible for pigment production. It is essential for normal pigmentation, and mutations in MITF can cause pigmentary disorders and raise the risk of melanoma, a type of skin cancer. MITF also plays a role in the development of certain retinal cells and is linked to Waardenburg syndrome.

MITF

TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein in the Tribbles family. TRIB1 plays essential roles in regulating various cellular signaling pathways, including those related to growth, metabolism, and inflammation. It is associated with lipid metabolism, cardiovascular health, and cancer, with its complex functions remaining a significant focus of ongoing research.

TRIB1

LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN protein family. It plays a role in neuronal development and synaptic function, contributing to the formation and maintenance of neural circuits. Abnormalities in LRFN5 may be linked to neurodevelopmental disorders.

LRFN5

RBPJ (Recombination Signal Binding Protein for Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signaling pathway, which plays a critical role in regulating cell fate, differentiation, and development. Proper function of RBPJ is essential for tissue development and cell specialization, while dysregulation of RBPJ and Notch signaling is linked to various diseases, including cancers and developmental disorders.

RBPJ

TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is a gene that encodes a protein essential for embryonic development, particularly in directing mesenchymal cell lineage determination. It plays a role in craniofacial development and is linked to Saethre-Chotzen syndrome — a congenital disorder characterized by craniosynostosis.

TWIST1

NCOR1 (Nuclear Receptor Corepressor 1) is a protein that plays a crucial role in regulating gene expression and transcriptional repression. Primarily located in the cell nucleus, NCOR1 modulates the activity of nuclear receptors and other transcription factors. It serves as a corepressor for receptors such as thyroid hormone receptors (TRs), retinoic acid receptors (RARs), and peroxisome proliferator-activated receptors (PPARs). By recruiting histone deacetylases (HDACs) and other chromatin-modifying enzymes, NCOR1 helps establish repressive chromatin structures, leading to decreased gene transcription.

NCOR1 

KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, affecting their activity. It plays key roles in cellular functions such as signal transduction and ion transport. Mutations in KCTD1 have been linked to developmental disorders, especially those impacting skin and hair.

KCTD1

SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is a protein that plays a key role in the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It is essential for lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can affect cholesterol levels and have been linked to cardiovascular disease risk.

SCARB1 

APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a crucial role in protein turnover by breaking down acetylated peptides. It participates in processing damaged or misfolded proteins, helping to maintain protein balance. Malfunctions in APEH can affect neurodegenerative processes and the body's ability to respond to oxidative stress.

APEH

GPR139 is a G protein-coupled receptor (GPCR) primarily found in the central nervous system, especially in areas involved in regulating neurotransmitter systems and neuronal activity. It is believed to modulate neurotransmission, particularly dopamine and glutamate signaling, and may function as an inhibitory receptor by decreasing cAMP levels and lowering neuronal excitability.

GPR139

SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that acts as a primary carnitine transporter in the body. It enables the cellular uptake of carnitine, a molecule essential for transporting fatty acids into mitochondria for energy production. This process is crucial for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene can cause primary carnitine deficiency, a disorder characterized by muscle weakness and cardiomyopathy, underscoring its important role in metabolic health and energy regulation.

SLC22A5

COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 is a gene that encodes a crucial component of type XI collagen, which is vital for the structure and integrity of connective tissue. Mutations in COL11A1 are associated with several connective tissue disorders, including certain forms of Ehlers-Danlos syndrome and Stickler syndrome.

COL11A1

SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is a protein involved in membrane trafficking processes, especially 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

THADA (Thyroid Adenoma Associated): THADA is a gene linked to thyroid adenomas, a type of thyroid tumor. It may contribute to the development of thyroid tumors and has been associated with thyroid cancer progression, making it a key focus of ongoing research in thyroid diseases.

THADA

PKP4 (Plakophilin 4): PKP4 is a protein that supports cell-to-cell adhesion, especially within desmosomes — specialized structures that connect neighboring cells. It helps maintain tissue integrity, particularly in areas subjected to mechanical stress. Mutations in PKP4 can impair this function, leading to certain skin and heart disorders.

PKP4

SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein that contains a SERTA domain, which is associated with cell cycle regulation. Beyond its role in cell cycle progression, SERTAD2 is involved in essential cellular processes such as DNA replication, DNA repair, and chromatin remodeling. Its interactions with various transcription factors and co-regulators establish it as a key regulator of gene expression.

SERTAD2

HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is a crucial gene involved in purine metabolism. It catalyzes the conversion of hypoxanthine into inosine monophosphate (IMP), a key precursor for purine nucleotide synthesis. Mutations in HPRT1 can lead to Lesch-Nyhan syndrome, a rare genetic disorder characterized by neurological and behavioral abnormalities.

HPRT1

HORMAD1 (HORMA Domain-Containing Protein 1): HORMAD1 is a gene that encodes a protein with a HORMA domain, which plays a role in chromosome dynamics during meiosis. It is essential for regulating homologous chromosome pairing and segregation, supporting genetic diversity and proper gamete formation.

HORMAD1

ATP1B3 (ATPase Na⁺/K⁺ Transporting Subunit Beta 3): ATP1B3 is a component of the Na⁺/K⁺ ATPase pump that maintains cellular ion gradients essential for regulating cell volume and electrical activity. This subunit affects the pump’s activity and specificity, supporting muscle function, nerve signaling, and kidney filtration. Changes in ATP1B3 may be associated with cardiovascular and neurological disorders.

ATP1B3

AHSG (Alpha-2-HS-Glycoprotein), also known as fetuin-A, is a glycoprotein involved in various physiological processes, including the inhibition of mineralization and the regulation of insulin sensitivity. Elevated AHSG levels have been associated with insulin resistance and metabolic syndrome, indicating its potential as a biomarker for these conditions.

AHSG

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

ATP8B1

ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which is involved in neuronal function. Mutations in ATXN1, particularly those with expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1)—a neurodegenerative disorder characterized by progressive loss of motor coordination and balance. Researching ATXN1 is crucial for understanding SCA1 and developing potential treatments for related neurological conditions.

ATXN1

AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a crucial protein that regulates autophagy, the process by which cells break down and recycle their components. It promotes cell survival under stress by collaborating with BECN1 (Beclin 1) to initiate autophagosome formation. Proper AMBRA1 function is vital for cellular homeostasis, and its dysfunction has been linked to developmental disorders and neurodegenerative diseases.

AMBRA1

ALX4 (ALX Homeobox 4): ALX4 is a transcription factor that plays a crucial role in the development of the skull and limbs. Mutations in this gene are associated with craniofacial malformations and skeletal abnormalities, highlighting its significance in bone formation and morphogenesis.

ALX4

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is an enzyme in the aldehyde dehydrogenase family that catalyzes the oxidation of retinaldehyde to retinoic acid, the active form of vitamin A. This conversion is essential for developmental processes such as embryogenesis, tissue patterning, and organ formation, as it regulates gene expression and cell differentiation through retinoic acid signaling. ALDH1A2 is highly expressed in developing tissues, including limb buds, the central nervous system, and sensory organs.

ALDH1A2

AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a key role in converting S-adenosylhomocysteine to homocysteine, an essential step in the body's methylation processes and detoxification.

AHCY

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

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

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

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

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

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

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

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

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....



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

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

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

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....

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

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

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

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

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

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

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....

PAPLN

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

OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor gene family, which is responsible for the sense of smell. These receptors detect and bind specific odor molecules. The specific ligands and functional role of OR5H14 in olfaction are not fully understood, but it contributes to the complex and diverse nature of smell perception....


OR5H14

PDE5A (Phosphodiesterase 5A): PDE5A encodes a phosphodiesterase enzyme that specifically targets cyclic GMP, a second messenger important in various biological processes. PDE5A is well-known for its role in vascular smooth muscle regulation, and inhibitors of PDE5A are used in treating erectile dysfunction and pulmonary hypertension. Research into PDE5A is significant for cardiovascular and urogenital health....


PDE5A

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...

MTHFD2

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a key enzyme in the folate metabolism pathway, catalyzing the conversion of tetrahydrofolate (THF) derivatives into forms used in the synthesis of DNA, RNA, and amino acids. It plays a crucial role in the one-carbon metabolism pathway, affecting cellular methylation reactions and nucleotide biosynthesis. Mutations or dysregulation of MTHFD1 can lead to disturbances in folate metabolism, associated with increased risk of congenital defects, cardiovascular diseases, and cancer, highlighting its pivotal role in cellular growth and replication processes....

MTHFD1

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....

CLOCK

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10, also known as MLK2 (Mixed Lineage Kinase 2), is a member of the mitogen-activated protein kinase kinase kinase (MAP3K) family, which plays a pivotal role in signaling pathways that regulate cell proliferation, differentiation, and apoptosis. This kinase acts as an upstream activator of the MAP kinase (MAPK) signaling cascade, responding to extracellular signals and translating them into cellular responses. MAP3K10's involvement is crucial for the development and maintenance of various physiological processes, and its activity is linked to neuronal function, immune responses, and stress responses. Dysregulation of MAP3K10 has been implicated in...

MAP3K10

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....

MFSD10 

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....


ARHGAP27

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is part of the mitochondrial ribosome, involved in mitochondrial protein synthesis. It plays a crucial role in the production of proteins required for mitochondrial function and energy production. Defects in MRPS31 can lead to mitochondrial disorders affecting various body systems....

MRPS31

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....

MUC1

NRG1 (Neuregulin 1): NRG1 is a signaling protein that is involved in neural development and synaptic plasticity. It plays a crucial role in the development of the nervous system and has been implicated in various neurological and psychiatric disorders, including schizophrenia....


NRG1

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....


PDE3B

ORM1, also known as Orosomucoid 1 or Alpha-1-acid glycoprotein 1, is a glycoprotein primarily synthesized in the liver and secreted into the bloodstream. It belongs to the acute phase reactant proteins, which are produced in response to inflammation, infection, or tissue injury. One of the primary functions of ORM1 is its role in modulating the immune response and inflammation. During acute-phase reactions, the production of ORM1 is upregulated by pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α). ORM1 plays a regulatory role in inflammation by binding to various substances, including drugs, hormones, and lipids, and modulating their distribution...


ORM1

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

OLFM4 (Olfactomedin 4): OLFM4 encodes a secreted protein that is expressed in various tissues, including the gastrointestinal tract. Its functions are not fully understood, but it is associated with the regulation of stem cell proliferation and differentiation in the gut, suggesting a role in tissue regeneration and maintenance....


OLFM4

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene involved in the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. Proper mitochondrial calcium levels are crucial for energy production and cell survival. MCUR1's role is essential in maintaining mitochondrial calcium homeostasis....

MCUR1

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....

MYO18A

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....


MYEOV

P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for ADP and plays a key role in platelet aggregation, a crucial step in blood clot formation. It is a target for antiplatelet drugs, which are used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for cardiovascular health and in the management of clotting disorders....


P2RY12

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....

MYBPC3

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1, also known as HPK1 (Hematopoietic Progenitor Kinase 1), is a member of the STE20 kinase family and plays a critical role in immune cell signaling. It is involved in the regulation of T cell activation and differentiation, acting upstream of the MAP kinase signaling pathway. MAP4K1's function in modulating immune responses makes it a potential target for immunotherapy, particularly in autoimmune diseases and cancer....

MAP4K1

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is involved in intracellular trafficking and plays a key role in the recycling of proteins and membranes from the endocytic recycling compartment. It is important for cellular homeostasis and the proper functioning of membrane traffic systems, with implications in various cellular processes, including signal transduction and immune responses....

RAB11FIP2

NCLN (Nicalin): NCLN, known as nicalin, is part of a complex that regulates intracellular signaling pathways crucial for developmental processes. It plays a key role in modulating Notch signaling, a pathway involved in cell differentiation, proliferation, and apoptosis. Dysregulation of NCLN or its associated pathways can lead to developmental abnormalities and has been implicated in various diseases, including cancer. NCLN's function in maintaining cellular communication underscores its importance in development and disease....


NCLN

REX1BD (REX1 Basic Domain): REX1BD is a gene associated with a basic domain that may play a role in DNA binding or protein-protein interactions. The specific functions and cellular processes involving REX1BD require further investigation to fully understand its contributions to biology....


REX1BD

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....



NR3C1

MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme involved in the repair of oxidized methionine residues in proteins, protecting cells from oxidative stress and maintaining protein function. It plays a role in antioxidant defense mechanisms and is important for cellular resilience to environmental stresses. Research into MSRB2 focuses on its potential role in aging, neurodegenerative diseases, and conditions related to oxidative damage....

MSRB2

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COL11A1

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Tests containing this item