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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 

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

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

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

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 

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

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

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

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

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

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.

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

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

JAK2 (Janus Kinase 2): JAK2 is a gene that encodes a kinase enzyme belonging to the Janus kinase (JAK) family. JAK2 plays a crucial role in cytokine signaling pathways and is essential for activating immune and blood-forming (hematopoietic) cells. Mutations in JAK2 are associated with blood disorders, including polycythemia vera and other myeloproliferative neoplasms.

JAK2

TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6): TRPM6 is a channel that plays a crucial role in magnesium (Mg) absorption and homeostasis. It is vital for maintaining the 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 (Ca) in the blood.

TRPM6

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

BCL2

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

NR4A2

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

TRMO

BHMT (Betaine-Homocysteine S-Methyltransferase): BHMT is an enzyme that indicates the body’s capacity to metabolize homocysteine, a process crucial for cardiovascular and neurological health. BHMT catalyzes the conversion of homocysteine into methionine using betaine as a methyl donor. Dysregulation of BHMT can result in elevated homocysteine levels, which are linked to cardiovascular disease and other health issues.

BHMT

ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is a protein that plays a crucial role in cell signaling by functioning as a GTPase-activating protein for members of the Arf and Rho families. It is essential for regulating cell migration and cytoskeletal organization, with potential implications in cancer metastasis and cellular morphology.

ARAP2

ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1): ALDH7A1 is an enzyme involved in the metabolism of aldehydes and is essential for detoxifying pyridoxal-5'-phosphate, a form of vitamin B6. Proper function of ALDH7A1 is critical for normal lysine metabolism, and a deficiency in this enzyme can lead to pyridoxine-dependent epilepsy, a condition in which seizures respond to vitamin B6 treatment.

ALDH7A1

ACKR2 (Atypical Chemokine Receptor 2): ACKR2 is a receptor, also known as D6, that operates in an unconventional manner by scavenging chemokines from its surroundings rather than signaling through traditional pathways. This function is crucial for regulating inflammatory responses and maintaining immune system balance. By removing chemokines, ACKR2 plays a vital role in controlling inflammation and has been associated with various inflammatory conditions, including asthma, psoriasis, and cancer.

ACKR2

TRIM63 (Tripartite Motif Containing 63): TRIM63 is a protein that plays a crucial role in muscle protein degradation, especially during muscle atrophy. Also known as MuRF1, it targets specific muscle proteins for ubiquitination and degradation within the proteasome. TRIM63 is significant in conditions involving muscle wasting, including cachexia, sarcopenia, and heart failure, and understanding its function may aid in developing treatments for muscle-wasting diseases.

TRIM63

TRMT6, also known as tRNA methyltransferase 6 homolog, is an enzyme that highlights the role of post-transcriptional modification in transfer RNA (tRNA). TRMT6 is part of the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and catalyzes the methylation of specific nucleotides within tRNA molecules. This modification, especially at the wobble position of adenosine residues, is essential for accurate and efficient translation of mRNA into protein, helping stabilize codon-anticodon interactions and ensuring fidelity during protein synthesis.

TRMT6

TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene that encodes a protein with E3 ubiquitin ligase activity, playing a key role in protein degradation. It has been linked to Mulibrey nanism, a rare growth disorder. Researching TRIM37 is crucial for understanding growth and developmental disorders as well as the function of the ubiquitin-proteasome system.

TRIM37

TRIM33 (Tripartite Motif Containing 33): TRIM33 is a protein that functions as an E3 ubiquitin ligase, involved in transcriptional regulation and DNA repair. It plays key roles in chromatin remodeling, stem cell differentiation, and the suppression of tumor development.

TRIM33

NLGN1 (Neuroligin 1): NLGN1 is a measure that indicates the presence and function of a key protein in the nervous system — Neuroligin 1, which is encoded by the NLGN1 gene. It plays an essential role in the formation and regulation of synapses, supporting synaptic specialization, strength, and plasticity. NLGN1 is crucial for learning, memory, and overall brain function, and has been a significant focus in research on autism spectrum disorders and other neurodevelopmental conditions.

NLGN1

NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene that encodes a transcription factor essential for gastrointestinal development and homeostasis. It helps regulate genes involved in the differentiation of intestinal epithelial cells and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases.

NKX2-3

SERPINA1 (Serpin Family A Member 1): SERPINA1 is a marker that indicates the activity of a key protease inhibitor in the body, also known as alpha-1-antitrypsin. Mainly produced in the liver, it plays a crucial role in protecting the lungs from neutrophil elastase. A deficiency in SERPINA1 can cause alpha-1-antitrypsin deficiency, a genetic disorder linked to lung conditions such as emphysema and COPD, as well as liver diseases. It is vital for preserving the balance of proteolytic activity in lung tissues.

SERPINA1

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a protein involved in various cellular functions, including stress response, cell growth, and metabolism. It acts as a regulator of signaling pathways and has been associated with the development of conditions like insulin resistance, cancer, and cardiovascular disease.

TRIB3

SERPINB10 (Serpin Family B Member 10): SERPINB10 (Serpin Family B Member 10) is part of the serpin family of protease inhibitors. It plays a role in regulating protease activity in various biological processes. Although its exact functions and implications in human disease are not yet fully understood, it is considered important for maintaining normal cellular regulation.

SERPINB10

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a pseudokinase that plays a crucial role in regulating multiple cellular signaling pathways involved in cell survival, metabolism, and stress responses. It helps modulate cellular stress by influencing pathways related to the unfolded protein response and insulin signaling. Elevated levels of TRIB3 have been linked to conditions such as insulin resistance, cardiovascular disease, and cancer by affecting cell proliferation and apoptosis.

NKAIN3 (Na+/K+ Transporting ATPase Interacting 3): NKAIN3 is a protein involved in regulating the Na+/K+ ATPase, which is essential for maintaining ion gradients across cell membranes. It plays a key role in neuronal function, particularly in controlling neuronal excitability and signal transmission. Dysfunctions in NKAIN3 may affect neural signaling and contribute to neurological disorders.

NKAIN3

TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in regulating essential cellular processes such as cell proliferation and survival. It acts as a modulator of signaling pathways and has been linked to cancer development, especially in leukemias.

TRIB2

FBOX21 (F-Box Protein 21): FBOX21 is a member of the F-box protein family, which are key components of the ubiquitin-proteasome system responsible for protein degradation. This system is essential for regulating protein levels within the cell and influences processes such as cell cycle progression, signal transduction, and apoptosis. FBOX21 specifically helps target proteins for degradation, supporting cellular homeostasis. Dysregulation of FBOX21 can contribute to diseases, including cancers, where abnormal protein accumulation or degradation promotes disease development.

FBOX21

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE measures the activity of an enzyme that breaks down thyrotropin-releasing hormone (TRH). TRH plays a crucial role in regulating the thyroid axis, and TRHDE is essential for maintaining hormonal balance, impacting metabolism and mood regulation.

TRHDE

BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor that binds bone morphogenetic proteins, playing a key role in bone formation and development. It is important for cell growth and differentiation and has been studied for its involvement in skeletal disorders and certain cancers.

BMPR1B

NNT (Nicotinamide Nucleotide Transhydrogenase): Nicotinamide Nucleotide Transhydrogenase (NNT) is an enzyme located in the inner mitochondrial membrane that plays a crucial role in regenerating NADPH from NADH. This process is vital for maintaining the cellular redox balance and protecting cells from oxidative stress. Deficiencies in NNT can impair mitochondrial function and increase susceptibility to oxidative damage, contributing to metabolic disorders and chronic diseases.

SELENOM (Selenoprotein M): SELENOM is part of the selenoprotein family, proteins that contain selenium. It is mainly located in the brain and is thought to have antioxidant effects. Although its precise function in neurological processes is not completely known, SELENOM may help shield neurons from oxidative stress, which could have implications for neurodegenerative disorders.

SELENOM

TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene that encodes a subunit of the trafficking protein particle (TRAPP) complex. This complex plays a crucial role in vesicle trafficking within cells, facilitating the transport of proteins and lipids between cellular compartments. TRAPPC9 is vital for maintaining proper cellular function and organization.

TRAPPC9

The MTHFS gene encodes methenyltetrahydrofolate synthetase, an enzyme involved in folate metabolism. It plays a vital role in maintaining the pool of active folate derivatives used for methylation, DNA synthesis, and neurotransmitter production. MTHFS regulates the conversion of various folate forms and helps keep the balance of one-carbon units essential for cellular function. Variants in this gene may disrupt folate recycling, potentially affecting methylation pathways and contributing to problems such as impaired detoxification, fatigue, or mood imbalance.

MTHFS

The TYMS gene encodes thymidylate synthase, a crucial enzyme involved in the production of thymidine, one of the four nucleotides necessary for DNA replication and repair. This enzyme depends on active folate (5,10-methylene-THF) to function effectively, closely linking TYMS to folate metabolism. Variants in the TYMS gene can influence folate availability at the cellular level and may affect how the body responds to folate or folate-based treatments. These changes can contribute to disrupted DNA synthesis, increased risk of certain diseases, or varied responses to chemotherapy or supplementation.

TYMS

The MTHFD1L gene encodes a mitochondrial enzyme involved in the folate cycle and one-carbon metabolism, specifically in converting formate to 10-formyl-THF. This process supports purine synthesis and methylation reactions, which are essential for DNA and RNA production and cellular repair. Genetic variations in MTHFD1L can impact mitochondrial folate metabolism and have been linked to a higher risk of neural tube defects, cardiovascular problems, and impaired methylation. It functions complementarily to the cytosolic MTHFD1 gene but operates within the mitochondria.

MTHFD1L

The PDXK gene codes for the enzyme pyridoxal kinase, which is crucial for converting vitamin B6 into its active form, pyridoxal-5′-phosphate (PLP). PLP acts as a coenzyme in over 100 enzymatic processes, many of which play roles in amino acid metabolism, neurotransmitter production, and energy generation. Variations in the PDXK gene can disrupt this conversion, potentially causing a functional vitamin B6 deficiency even when vitamin B6 intake is adequate. Altered PLP levels have been associated with neurological symptoms, fatigue, and mood changes.

PDXK

TUFM (Tu Translation Elongation Factor, Mitochondrial): TUFM is a protein that plays a crucial role in mitochondrial protein synthesis, facilitating the translation process within mitochondria. It is vital for proper mitochondrial function and energy production, with potential implications in mitochondrial disorders and conditions related to impaired energy metabolism.

TUFM

The SLC19A1 gene encodes reduced folate carrier 1 (RFC1), a key transporter responsible for moving folate and its derivatives into cells. This transport system is essential for cellular uptake of folate, which is required for DNA synthesis, repair, methylation processes, and red blood cell formation. Variants in this gene may impair folate transport, potentially causing reduced intracellular folate levels even when dietary intake is sufficient. Such dysfunctions have been associated with developmental issues, fatigue, cognitive problems, and elevated homocysteine levels.

SLC19A1

TCN1 encodes the protein haptocorrin, also known as transcobalamin I, which binds vitamin B12 (cobalamin) in saliva and protects it from degradation in the acidic environment of the stomach. This initial binding allows B12 to reach the small intestine, where it is then transferred to intrinsic factor for absorption. Variants in the TCN1 gene may affect the stability or availability of B12 in the digestive tract, potentially contributing to suboptimal B12 status. Although not directly involved in cellular B12 transport like TCN2, TCN1 plays a critical early role in vitamin B12 processing.

TCN1

TUB (Tubby Bipartite Transcription Factor): TUB is a gene that encodes the Tubby bipartite transcription factor, which plays a key role in regulating appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is especially important for understanding metabolic disorders and eye diseases, providing insights into the genetic factors behind obesity and vision issues.

TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is a gene that encodes a protein involved in the metabolism and transport of vitamin E within cells. It contributes to antioxidant defense and cell signaling, playing a role in maintaining the health of the nervous system and other vitamin E-sensitive pathways.

TPGS2

ORMDO3 (Oligoribonuclease, mitochondrial): ORMDO3 is a gene that encodes an enzyme crucial for maintaining cellular homeostasis within the mitochondria. ORMDO3 specifically breaks down short mitochondrial RNA fragments, aiding in the regulation of mitochondrial gene expression and ensuring proper mitochondrial function. Dysregulation of ORMDO3 can result in RNA accumulation, impaired mitochondrial activity, and impacts on overall cellular health, with potential links to mitochondrial-related disorders.

ORMDO3

PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha): PIK3C2A is a member of the PI3K family and a key regulator in cell signaling pathways that control cell growth and survival. It is involved in membrane trafficking, insulin signaling, and cytoskeletal dynamics. Dysregulation of PIK3C2A can contribute to the development of diseases such as cancer and metabolic disorders.

PIK3C2A

MAML3 (Mastermind-Like Transcriptional Coactivator 3): MAML3 is a gene that signifies its function in transcriptional coactivation. It interacts with various transcription factors to boost their activity, thereby affecting gene expression patterns. MAML3 plays a key role in transcriptional regulation and is involved in developmental processes and cell differentiation.

MAML3

PRELID1 (Prelamin A-Related Integral Membrane Protein 1): PRELID1 is a gene involved in nuclear envelope biology. It plays a crucial role in the processing of prelamin A, the precursor to lamin A, which is a vital structural component of the nuclear envelope. Proper PRELID1 function is essential for maintaining nuclear structure and integrity, and changes in this gene may impact nuclear organization and cellular function.

PRELID1

PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is a gene that encodes a protein responsible for anchoring acetylcholinesterase to neuronal membranes. This protein plays a crucial role in the breakdown of the neurotransmitter acetylcholine and is essential for regulating cholinergic neurotransmission. It is also a focus of research in neurodegenerative diseases such as Alzheimer’s.

PRIMA1

MDFI (MyoD Family Inhibitor): MDFI is a gene involved in regulating muscle differentiation and development. It acts as an inhibitor of MyoD family transcription factors, which are key regulators of myogenesis. By modulating their activity, MDFI helps control muscle cell proliferation and differentiation, playing a vital role in muscle formation and repair. Dysregulation of MDFI can affect muscle development and regeneration.

MDFI

MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor that plays a crucial role in regulating energy balance, appetite, and body weight. Mutations in MC4R are among the most common genetic causes of obesity, underscoring its significance in controlling energy homeostasis. It is also a target for developing obesity treatments.

MC4R

SBF2 (SET Binding Factor 2): SBF2 is a protein involved in nerve development and function. It plays a key role in maintaining the structure and health of peripheral nerves. Mutations in SBF2 have been linked to Charcot-Marie-Tooth disease, a hereditary neurological disorder that can cause nerve degeneration, muscle weakness, and sensory loss.

SBF2

PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2): PPP6R2 is a gene that encodes a regulatory subunit of protein phosphatase 6 (PP6). PP6 is involved in the dephosphorylation of target proteins and plays key roles in cell cycle regulation, DNA damage repair, and cellular signaling. PPP6R2 helps modulate the activity and specificity of PP6, influencing these critical cellular processes.

PPP6R2

SEMA6D (Semaphorin 6D): SEMA6D is a gene that encodes a protein in the semaphorin family, which is involved in axon guidance and neural development. SEMA6D plays a role in neuronal signaling and migration during development. It may affect the formation of neural circuits and is linked to neurodevelopmental disorders.

SEMA6D

TIAM2, also known as T-lymphoma invasion and metastasis-inducing protein 2, is a key member of the TIAM family of guanine nucleotide exchange factors (GEFs). Primarily located in the cytoplasm, TIAM2 is essential for regulating cellular processes, especially those involving cytoskeletal dynamics, cell migration, and invasion. A defining feature of TIAM2 is its role as a molecular switch for activating Rho GTPases, particularly Rac1. Through its GEF activity, TIAM2 facilitates the exchange of GDP for GTP on Rac1, triggering downstream signaling pathways that control actin cytoskeleton rearrangements.

TIAM2

HNMT (Histamine N-Methyltransferase): HNMT is an enzyme that inactivates histamine through methylation. It plays a crucial role in histamine metabolism, and variations in this gene can affect histamine-related pathways, influencing allergic reactions and other histamine-associated conditions.

HNMT

RTL1 (Retrotransposon Like 1): RTL1 is a gene believed to have originated from a retrotransposon and plays a crucial role in placental development. It shows imprinted expression, meaning it is active from only one parental allele. Dysregulation of RTL1 can lead to disorders related to genomic imprinting, such as Beckwith-Wiedemann syndrome.

RTL1

RPS20 (Ribosomal Protein S20): RPS20 is a ribosomal protein that plays a crucial role in ribosome assembly and protein synthesis. It is a component of the small ribosomal subunit and is essential for accurate translation. Mutations in RPS20 and other ribosomal proteins can cause ribosomopathies, a group of disorders characterized by defective ribosome function and developmental abnormalities.

RPS20

MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1): MDGA1 is a protein involved in neural development and cell adhesion. It plays a key role in axon guidance and contributes to neural connectivity and synaptic function.

MDGA1

GPR25 (G Protein-Coupled Receptor 25): GPR25 is a receptor that belongs to the G protein-coupled receptor family. It plays a role in physiological processes such as signal transduction and cell communication. Although its exact functions in human health and disease are still being studied, it is believed to contribute to various cellular activities.

GPR25

EDA2R, also known as Ectodysplasin A2 receptor, is a protein encoded by the EDA2R gene. It is part of the tumor necrosis factor receptor (TNFR) superfamily and functions as a receptor for ectodysplasin A2 (EDA-A2), a signaling molecule. EDA2R plays a crucial role in mediating EDA-A2 signaling during embryonic development, which controls the formation and patterning of ectodermal tissues such as hair, teeth, and sweat glands.

EDA2R

THEMIS2 (Thymocyte Selection Associated Family Member 2): THEMIS2 is a gene mainly expressed in immune cells and plays a role in regulating innate immune responses. It is involved in signaling pathways that affect the activation and function of macrophages and B cells. Its function in immune regulation suggests a potential role in inflammatory diseases and makes it a possible target for modulating immune activity in autoimmune conditions and infections.

THEMIS2

LRRC37A (Leucine Rich Repeat Containing 37A): LRRC37A is a gene located in a complex genomic region and is associated with brain development. It has been linked to neurodevelopmental disorders, including autism spectrum disorder, although its exact role and underlying mechanisms are still being studied.

LRRC37A

MROH8 (Maestro Heat Like Repeat Family Member 8): MROH8 is a gene that encodes a protein containing heat-like repeat domains, which play a role in facilitating protein-protein interactions. Its precise biological function is not yet fully understood and is still being researched.

MROH8

SESN3 (Sestrin 3): SESN3 is a member of the sestrin family of stress-responsive proteins. It plays a role in regulating cell growth and metabolism, especially under conditions of cellular stress. SESN3 also supports antioxidant defense and is linked to metabolic regulation, with potential relevance to conditions such as obesity and diabetes.

SESN3

PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 plays a key role in regulating immune cell activation, cytokine production, and other cellular functions, influencing the body’s inflammatory processes. It has been studied in the context of autoimmune and inflammatory diseases.

PTGER4

PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a gene that encodes a protein belonging to the protein tyrosine phosphatase family, which is essential for cell signaling. It contributes to regulating cellular processes such as cell growth and differentiation. Mutations in PTPRT have been associated with several cancers, especially colorectal cancer, due to its role in signaling pathways that control cell proliferation.

PTPRT

MICAL2 (Molecule Interacting with CasL 2): MICAL2 is an enzyme that belongs to the MICAL family, known for regulating cytoskeletal dynamics through the oxidation of actin. MICAL2 plays a key role in controlling actin filament disassembly, which affects cell shape, migration, and intracellular transport. Its activity is essential for processes such as neurite outgrowth, axon guidance, and the maintenance of synaptic and vascular structures. By modulating the cytoskeleton, MICAL2 supports cell communication, differentiation, and movement. Dysregulation of MICAL2 has been associated with cancer progression, neurological disorders, and vascular diseases.

MICAL2

MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is a part of the mitochondrial ribosome, essential for synthesizing proteins within mitochondria. It plays a crucial role in producing proteins necessary for mitochondrial function and energy production. Deficiencies in MRPS9 can decrease mitochondrial efficiency and may be linked to mitochondrial disorders, affecting overall cellular energy metabolism.

MRPS9

TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors that plays a crucial role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and programmed cell death. It is involved in embryonic development, stem cell maintenance, and tumor formation. Mutations in TP63 can lead to various developmental disorders and have been associated with certain cancers. Research continues to investigate its dual functions in normal cell activity and disease.

TP63

OXTR (Oxytocin Receptor): OXTR is a gene that encodes the receptor for oxytocin, a hormone involved in social bonding, sexual reproduction, childbirth, and maternal behaviors. It plays a key role in regulating social interactions and trust, and dysregulation may contribute to conditions such as autism and social anxiety disorders.

OXTR

NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor that regulates genes involved in erythropoiesis, the production of red blood cells. It plays a key role in the development and maturation of erythroid cells. Alterations or mutations in NFE2 can affect red blood cell production and may contribute to blood disorders.

NFE2

RWDD3 (RWD Domain Containing 3): RWDD3 is a protein whose function is not yet fully understood. It is being studied for its potential roles in cellular processes and its significance to human health and disease.

RWDD3

SARDH (Sarcosine Dehydrogenase): SARDH is an enzyme involved in the metabolism of sarcosine, an intermediate in the conversion of choline to glycine. It plays a key role in one-carbon metabolism, which is important for processes such as DNA methylation. Dysfunctions in SARDH can affect metabolic pathways and have been associated with certain metabolic disorders.

SARDH

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is part of the transmembrane serine protease family, found on the cell surface and responsible for activating proteins by cleaving peptide bonds. TMPRSS4 plays significant roles in both physiological and pathological processes, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is essential for development, wound healing, and cancer metastasis. Its overexpression has been associated with the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis.

TMPRSS4

MPO (Myeloperoxidase): MPO is an enzyme mainly found in neutrophils and plays a crucial role in the body’s defense system. It produces hypochlorous acid and other reactive molecules from hydrogen peroxide to fight bacteria and pathogens. While vital for immune defense, MPO activity can also cause tissue damage during inflammation and has been associated with diseases, including cardiovascular conditions, due to its involvement in oxidative stress.

PVR (Poliovirus Receptor): PVR is a transmembrane glycoprotein that serves as a receptor for poliovirus and related enteroviruses, enabling viral entry and infection. In addition to its role in viral recognition, PVR is crucial for cell-cell adhesion, immune regulation, and maintaining tissue homeostasis. It supports the integrity of epithelial and endothelial barriers through its role in adherens and tight junctions. PVR interactions with ligands such as TIGIT and DNAM-1 help regulate immune cell activation, affecting both innate and adaptive immune responses. Abnormal expression or function of PVR can significantly impact immune function and tissue integrity.

CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D): CACNA1D is a gene that encodes a subunit of the L-type voltage-dependent calcium channel, which plays a crucial role in regulating calcium influx in various cell types, particularly muscle and nerve cells. Mutations in this gene have been associated with conditions such as autism spectrum disorders, epilepsy, and certain cardiac dysfunctions.

CACNA1D

MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a crucial role in producing proteins that are part of the mitochondrial respiratory chain. Dysfunction in MRPS18C can affect mitochondrial function and energy metabolism, potentially contributing to mitochondrial disorders.

MRPS18C

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NFE2

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Tests containing this item