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DNA Diet & Nutrition from GetTested is a health test that analyses your genetic variations to provide a detailed understanding of how your body processes various nutrients. Utilizing a simple saliva sample for DNA collection, this test delivers insights into your genetic makeup related to diet and nutrition. It offers a personalized analysis of macronutrients, fat metabolism, vitamin and mineral requirements, as well as genetic predispositions to various sensitivities/intolerances and eating behaviors.

<p>DNA Diet & Nutrition from GetTested is a health test that analyses your genetic variations to provide a detailed understanding of how your body processes various nutrients. Utilizing a simple saliva sample for DNA collection, this test delivers insights into your genetic makeup related to diet and nutrition. It offers a personalized analysis of macronutrients, fat metabolism, vitamin and mineral requirements, as well as genetic predispositions to various sensitivities/intolerances and eating behaviors.</p>

DNA Diet & Nutrition Test

AHCY encodes the enzyme adenosylhomocysteinase, which is essential for converting S-adenosylhomocysteine into homocysteine. This reaction is a key step in the body’s methylation cycle and plays an important role in detoxification processes.

AHCY

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 critical 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

ALX4 (ALX Homeobox 4): ALX4 is a transcription factor that plays a key role in skull and limb development. Mutations in this gene are linked to craniofacial malformations and skeletal abnormalities, underscoring its importance in bone formation and morphogenesis.

ALX4

AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key protein that regulates autophagy, the process by which cells degrade and recycle their components. It supports cell survival during stress by working with BECN1 (Beclin 1) to initiate autophagosome formation. Proper function of AMBRA1 is essential for cellular homeostasis, and its dysregulation has been associated with developmental disorders and neurodegenerative diseases.

AMBRA1

ATXN1 (Ataxin 1):ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, especially those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder marked by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatments for related neurological diseases.

ATXN1

ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter found in the liver cell membrane. It helps maintain the lipid balance of cell membranes and bile. Mutations in ATP8B1 can lead to progressive familial intrahepatic cholestasis (PFIC), a group of inherited liver disorders.

ATP8B1

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

AHSG

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

ATP1B3

APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a key role in protein turnover by degrading acetylated peptides. It is involved in processing damaged or misfolded proteins, helping to maintain protein homeostasis. Dysfunctions in APEH can impact neurodegenerative processes and the body’s response to oxidative stress.

APEH

NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that plays a key role in the NAD+ biosynthesis pathway by catalyzing the conversion of nicotinamide riboside to nicotinamide mononucleotide. NAD+ is essential for energy metabolism, DNA repair, and cellular signaling. Through its role in NAD+ production, NMRK1 is important for maintaining cellular energy balance and genomic stability, with implications for aging, metabolic disorders, and conditions linked to 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 key role in cytokine signaling pathways and is essential for the activation of immune and blood-forming (hematopoietic) cells. Mutations in JAK2 are linked to 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 key role in magnesium (Mg) absorption and homeostasis. It is essential for maintaining proper magnesium balance in the body, and mutations in TRPM6 can result in hypomagnesemia with secondary hypocalcemia, a condition marked by low magnesium and calcium (Ca) levels 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 that plays a role in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. These tRNA modifications are essential for ensuring accurate protein synthesis during translation.

TRMO

BHMT (Betaine-Homocysteine S-Methyltransferase): BHMT is an enzyme that reflects the body’s ability to metabolize homocysteine, a process important for cardiovascular and neurological health. BHMT catalyzes the conversion of homocysteine to methionine using betaine as a methyl donor. Dysregulation of BHMT can lead to elevated homocysteine levels, which are associated with cardiovascular disease and other health concerns.



BHMT

ARAP2 (ArfGAP With RhoGAP Domain, Ankyrin Repeat, and PH Domain 2): ARAP2 is a protein that plays a key role in cell signaling by acting as a GTPase-activating protein for Arf and Rho family members. It is important 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 the detoxification of pyridoxal-5'-phosphate, a form of vitamin B6. Proper function of ALDH7A1 is critical for normal lysine metabolism, and deficiency in this enzyme can lead to pyridoxine-dependent epilepsy, a condition in which seizures are responsive to vitamin B6 treatment.

ALDH7A1

ACKR2 (Atypical Chemokine Receptor 2): ACKR2 is a receptor, also known as D6, that functions in an unconventional way by scavenging chemokines from the environment rather than signaling through typical pathways. This activity is essential for regulating inflammatory responses and maintaining immune balance. By clearing chemokines, ACKR2 plays a key role in controlling inflammation and has been linked to various inflammatory conditions, including asthma, psoriasis, and cancer.

ACKR2

TRIM63 (Tripartite Motif Containing 63): TRIM63 is a protein that plays a key role in muscle protein degradation, particularly during muscle atrophy. Also known as MuRF1, it targets specific muscle proteins for ubiquitination and degradation in the proteasome. TRIM63 is important in conditions of muscle wasting, including cachexia, sarcopenia, and heart failure, and understanding its function may help in developing therapies for muscle-wasting diseases.




TRIM63

TRMT6, also known as tRNA methyltransferase 6 homolog, is an enzyme that reflects the role of post-transcriptional modification in transfer RNA (tRNA). TRMT6 belongs to the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and catalyzes the methylation of specific nucleotides within tRNA molecules. This modification, particularly at the wobble position of adenosine residues, is crucial 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 associated with Mulibrey nanism, a rare growth disorder. Studying TRIM37 is important 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 important roles in chromatin remodeling, stem cell differentiation, and the suppression of tumor development.

TRIM33

NLGN1 (Neuroligin 1): NLGN1 is a measure that reflects the presence and function of a key protein in the nervous system — Neuroligin 1, encoded by the NLGN1 gene. It plays a vital role in the formation and modulation of synapses, supporting synaptic specialization, strength, and plasticity. NLGN1 is critical for learning, memory, and overall brain function, and has been a 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 important for gastrointestinal development and homeostasis. It helps regulate genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been linked to inflammatory bowel diseases.


NKX2-3

SERPINA1 (Serpin Family A Member 1): SERPINA1 is a measure that reflects the activity of a key protease inhibitor in the body, also known as alpha-1-antitrypsin. Primarily produced in the liver, it plays a vital role in protecting the lungs from neutrophil elastase. Deficiency in SERPINA1 can lead to alpha-1-antitrypsin deficiency, a genetic condition associated with lung diseases such as emphysema and COPD, as well as liver disorders. It is essential for maintaining the balance of proteolytic activity in lung tissues.

SERPINA1

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a protein that plays a role in multiple cellular processes, including stress response, cell proliferation, and metabolism. It functions as a modulator of signaling pathways and has been linked to the development of conditions such as insulin resistance, cancer, and cardiovascular diseases.

TRIB3

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

SERPINB10

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a pseudokinase that plays a key 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 associated with 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 impact neural signaling and contribute to neurological disorders.



NKAIN3

TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in regulating key cellular processes such as cell proliferation and survival. It functions as a modulator of signaling pathways and has been associated with cancer development, particularly in leukemias.

TRIB2

TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. TRIB1 plays key roles in regulating multiple cellular signaling pathways, including those involved in growth, metabolism, and inflammation. It has been linked to lipid metabolism, cardiovascular health, and cancer, with its complex functions continuing to be an active area of research.



TRIB1

FBOX21 (F-Box Protein 21): FBOX21 is a member of the F-box family of proteins, which are key components of the ubiquitin-proteasome system responsible for protein degradation. This system is essential for regulating protein levels within the cell, influencing 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 drives disease development.

FBOX21

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE is a measure that reflects the activity of an enzyme responsible for breaking down thyrotropin-releasing hormone (TRH). TRH plays a key role in regulating the thyroid axis, and TRHDE is important for maintaining hormonal balance, with implications for 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 key role in regenerating NADPH from NADH. This process is essential for maintaining the cellular redox balance and protecting cells from oxidative stress. Deficiencies in NNT can impair mitochondrial function and increase vulnerability to oxidative damage, contributing to metabolic disorders and chronic diseases.



SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that functions as a key carnitine transporter in the body. It facilitates the cellular uptake of carnitine, a compound essential for moving fatty acids into mitochondria for energy production. This process is critical for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene can result in primary carnitine deficiency, a condition marked by muscle weakness and cardiomyopathy, highlighting its vital role in metabolic health and energy balance.


SLC22A5

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




SCAMP1

SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It is primarily found in the brain and is believed to have antioxidant properties. While its exact role in neurological function is not fully understood, SELENOM may help protect neurons from oxidative stress, with potential implications for neurodegenerative diseases.




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 key role in vesicle trafficking within cells, supporting the transport of proteins and lipids between cellular compartments. TRAPPC9 is essential for maintaining proper cellular function and organization.

TRAPPC9

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




TUFM

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 associated with obesity and retinal degeneration. This gene is particularly important for understanding metabolic disorders and eye diseases, offering insights into the genetic factors underlying obesity and vision problems.

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

MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor that plays a key role in regulating energy balance, appetite, and body weight. Mutations in MC4R are among the most common genetic causes of obesity, highlighting its importance in controlling energy homeostasis. It is also 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 in the heart muscle. This protein is essential for cardiac muscle contraction, enabling the heart to pump blood effectively throughout the body. The alpha heavy chain plays a key role in atrial contraction, supporting the initial filling phase of the ventricles. Mutations in MYH6 have been associated with various cardiac disorders, including atrial septal defects, cardiomyopathies, and heart rhythm abnormalities, highlighting its critical role in heart function and development.


MYH6

SESN3 (Sestrin 3): SESN3 is a member of the sestrin family of stress-responsive proteins. It is involved in regulating cell growth and metabolism, particularly under conditions of cellular stress. SESN3 also contributes to antioxidant defense and has been associated with metabolic regulation, with potential implications for conditions such as obesity and diabetes.

SESN3

NUDT12 (Nudix Hydrolase 12): NUDT12 is an enzyme that helps maintain cellular health by hydrolyzing oxidized nucleotides, preventing their incorporation into DNA and RNA. It plays a key role in protecting cells from oxidative damage and 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 key role in the regulation of peptide signaling molecules. It is primarily located on the cell membrane of various cell types, including neurons, endothelial cells, and immune cells. MME is especially important for degrading peptides involved in blood pressure regulation, such as bradykinin and atrial natriuretic peptide (ANP), converting them into inactive fragments and helping maintain cardiovascular homeostasis.



NCOR1 (Nuclear Receptor Corepressor 1) is a protein that plays a key role in regulating gene expression and transcriptional repression. Located mainly in the cell nucleus, NCOR1 modulates the activity of nuclear receptors and other transcription factors. It functions 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 form repressive chromatin structures, leading to reduced gene transcription.

NCOR1 

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

ZNF584 (Zinc Finger Protein 584): ZNF584 is a member of the zinc finger protein family, typically involved in DNA binding and gene regulation. Although its specific functions are not fully defined, ZNF584 may contribute to transcriptional regulation, affecting various cellular processes and potentially influencing developmental pathways or disease mechanisms.

ZNF584

TMEM72 (Transmembrane Protein 72): TMEM72 is a transmembrane protein whose functions are not yet fully characterized. Like other transmembrane proteins, TMEM72 is believed to play roles in cellular signaling, transport, and communication. Its specific involvement in cellular processes and potential implications in human diseases are currently under investigation.

TMEM72

NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is a gene involved in regulating cell growth and differentiation. It functions as a tumor suppressor and plays a key role in stress responses and the inhibition of cell proliferation. NDRG2 is particularly important for brain and nervous system development, and its dysregulation has been linked to multiple types of cancer.

NDRG2

TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11B): TNFRSF11B is a protein, also known as osteoprotegerin, that plays a key role in bone metabolism. It acts as a decoy receptor for RANKL, helping to inhibit osteoclast formation and prevent bone resorption. TNFRSF11B is essential for maintaining bone density and strength, and changes in its function are associated with osteoporosis and other bone disorders.

TNFRSF11B

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

TMPRSS4

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



MRPS18C

PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that regulates the availability of insulin-like growth factors (IGFs) by cleaving their binding proteins. It plays a crucial role in fetal development and is 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). PAPP-A is involved in pregnancy-related processes and plays a key role in regulating insulin-like growth factor (IGF) signaling.

PAPLN

NEO1 (Neogenin 1): NEO1 is a cell surface receptor that reflects the balance of signals guiding key cellular processes, including cell adhesion, migration, and axon guidance. Belonging to the immunoglobulin superfamily, NEO1 plays essential roles in nervous system development, apoptosis regulation, and tissue homeostasis. Acting as a receptor for netrin-1 and other ligands, it directs axonal growth and neuronal migration critical for brain formation. Dysregulation or mutations in NEO1 have been linked to developmental disorders as well as cancer progression and metastasis.



NEO1

OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor (OR) gene family, which is responsible for detecting and binding odor molecules. These receptors play a key role in the sense of smell. The specific ligands and precise function of OR5H14 in olfaction are not yet fully understood, but it contributes to the complexity and diversity of smell perception.



OR5H14

PDE5A (Phosphodiesterase 5A): PDE5A is a gene that encodes an enzyme specifically targeting cyclic GMP (cGMP), a key second messenger in various biological processes. PDE5A plays an important role in regulating vascular smooth muscle, and its inhibitors are commonly used to treat erectile dysfunction and pulmonary hypertension. Research on PDE5A is significant for cardiovascular and urogenital health.



PDE5A

MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a key role in the mitochondrial one-carbon metabolic pathway. It is essential for nucleotide biosynthesis, methylation reactions, and amino acid homeostasis. MTHFD2 is highly expressed in rapidly dividing cells, including cancer cells, where it supports the production of purines and thymidylate, critical for DNA replication and repair. Its role in cellular metabolism and proliferation underscores its importance in growth and development, and its selective expression in tumors makes it a potential therapeutic target.



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 for the synthesis of DNA, RNA, and amino acids. It plays a vital role in one-carbon metabolism, influencing cellular methylation reactions and nucleotide production. Mutations or dysregulation of MTHFD1 can disrupt folate metabolism and are associated with an increased risk of congenital defects, cardiovascular diseases, and cancer.




MTHFD1

CLOCK (Circadian Locomotor Output Cycles Kaput): CLOCK is a gene that plays a key role in regulating circadian rhythms — the physical, mental, and behavioral changes that follow a 24-hour cycle. It helps control sleep-wake patterns and various physiological processes, including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, contributing to sleep disorders, metabolic syndrome, and mood disturbances.

CLOCK

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10 is a member of the MAP3K family, also known as MLK2 (Mixed Lineage Kinase 2). This kinase plays a key role in cellular signaling pathways that regulate cell proliferation, differentiation, and apoptosis. MAP3K10 acts as an upstream activator of the MAP kinase (MAPK) cascade, translating extracellular signals into cellular responses. It is essential for neuronal function, immune regulation, and stress response, and dysregulation of MAP3K10 has been linked to various physiological and pathological conditions.



MAP3K10

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function is still under investigation, MFSD10 may play a role in nutrient transport and the maintenance of cellular homeostasis.

MFSD10 

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 is a protein that reflects the regulation of actin cytoskeleton dynamics, cell morphology, and motility through its control of Rho GTPases. These GTPases are essential regulators of cellular processes including vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27’s role in modulating cell adhesion and migration is particularly important for tissue development, wound healing, and processes such as tumor progression and metastasis.




ARHGAP27

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins required for proper mitochondrial function and energy generation. Defects in MRPS31 can result in mitochondrial disorders that impact multiple body systems.



MRPS31

MUC1 (Mucin 1): MUC1 is a gene that encodes a glycoprotein present on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It plays important roles in protection, lubrication, and cell signaling. Abnormal expression of MUC1 is linked to the development of several cancers.



MUC1

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is a protein that regulates metalloproteinases, enzymes responsible for breaking down components of the extracellular matrix. TIMP4 plays a key role in tissue remodeling and is important for processes such as wound healing and angiogenesis.



TIMP4

NRG1 (Neuregulin 1): NRG1 is a signaling protein that plays a key role in neural development and synaptic plasticity. It is essential for the proper formation and function of the nervous system and has been associated with various neurological and psychiatric disorders, including schizophrenia.



NRG1

PDE3B (Phosphodiesterase 3B): PDE3B is an enzyme that plays a key role in regulating lipid and glucose metabolism. It is involved in breaking down cyclic AMP (cAMP), a signaling molecule, thereby influencing processes such as lipolysis and insulin secretion. Dysregulation of PDE3B has implications for metabolic disorders, including obesity and diabetes.



PDE3B

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



ORM1

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that encodes a protein belonging to the Tweety family. This protein is known to have ion channel activity, particularly involving chloride ions. Proteins in the Tweety family play important roles in ion transport across cell membranes, contributing to cellular homeostasis, regulation of cell volume, and maintenance of ion balance. While the full functions of TTYH2 are still under investigation, it may have significant roles in cellular physiology.




TTYH2

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



OLFM4

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that reflects the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a key role in maintaining proper mitochondrial calcium levels, which are essential for energy production, cell survival, and overall mitochondrial function.



MCUR1

MYO18A (Myosin XVIIIA): MYO18A is a protein that reflects a unique type of myosin in the body. It plays important roles in cytoskeleton organization and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are associated with muscle disorders and may be linked to certain forms of cancer.


MYO18A

MYEOV (Myeloma Overexpressed Gene): MYEOV is a gene that is often overexpressed in multiple myeloma and other cancers. It is thought to contribute to cancer cell proliferation and survival, making it a potential target for cancer therapy.



MYEOV

P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for adenosine diphosphate (ADP) that plays a key role in platelet aggregation — an essential process in blood clot formation. It is a primary target for antiplatelet drugs used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for maintaining cardiovascular health and managing clotting disorders.



P2RY12

MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a key regulator of heart muscle contraction. Variants in this gene are a frequent cause of hypertrophic cardiomyopathy, a major contributor to sudden cardiac death, particularly in young athletes. It plays a critical role in maintaining normal cardiac muscle structure and function.


MYBPC3

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1 is a signaling protein, also known as HPK1 (Hematopoietic Progenitor Kinase 1), and a member of the STE20 kinase family. It plays an important role in immune cell signaling, regulating T cell activation and differentiation by acting upstream in the MAP kinase pathway. Through its role in modulating immune responses, MAP4K1 is considered a potential target for immunotherapy, particularly in autoimmune disorders and cancer.

MAP4K1

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a vital role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.

RAB11FIP2

TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is a gene that encodes a protein essential for embryonic development, particularly in guiding mesenchymal cell lineage determination. It is involved in craniofacial formation and is associated with Saethre-Chotzen syndrome — a congenital condition marked by craniosynostosis.




TWIST1

NCLN (Nicalin): NCLN is a protein that forms part of a complex regulating intracellular signaling pathways essential for development. It plays a critical role in modulating Notch signaling — a pathway controlling cell differentiation, proliferation, and apoptosis. Disruption of NCLN or related pathways can contribute to developmental disorders and various diseases, including cancer, highlighting its importance in cellular communication and overall developmental processes.



NCLN

REX1BD (REX1 Basic Domain): REX1BD is a gene region characterized by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.



REX1BD

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 is a gene that encodes the glucocorticoid receptor, which mediates the actions of glucocorticoids — a class of steroid hormones. This receptor is essential for regulating stress responses, immune activity, and metabolism. Dysregulation of NR3C1 has been linked to stress-related disorders, inflammatory conditions, and metabolic diseases, making it a key player in the body’s adaptation to stress and inflammation.


NR3C1

MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme that helps repair oxidized methionine residues in proteins, safeguarding cells from oxidative stress and preserving protein function. It is a key component of the body’s antioxidant defense system, supporting cellular resilience against environmental challenges. Studies on MSRB2 explore its potential links to aging, neurodegenerative disorders, and other conditions associated with oxidative damage.



MSRB2

NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a receptor found on natural killer (NK) cells and certain T cells. It is involved in identifying and targeting infected or abnormal cells for destruction, playing a key role in the innate immune defense against viruses and tumor cells.

NCR3

MOV10L1 (Moloney leukemia virus 10-like protein 1): MOV10L1 is an RNA helicase that plays a key role in RNA metabolism and post-transcriptional regulation. It participates in processes such as RNA interference, RNA degradation, and mRNA translation by unwinding RNA duplexes and aiding in the removal of target RNAs. MOV10L1 helps control gene expression, restrict retroviruses and retrotransposons, and maintain genome stability, with dysregulation linked to various biological and disease processes.


MOV10L1

NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene that encodes a component of the nuclear pore complex — a key structure in the nuclear envelope that controls the movement of molecules between the nucleus and cytoplasm. Changes in NUP62CL can disrupt nuclear transport and may be linked to neurodegenerative disorders and certain cancers.



NUP62CL

TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is a protein that plays a key role in regulating iron metabolism, primarily through the control of hepcidin — the hormone that governs iron absorption. Mutations in TMPRSS6 can cause iron-refractory iron deficiency anemia (IRIDA), a form of anemia that does not improve with oral iron supplementation.




TMPRSS6

RFC4 (Replication Factor C Subunit 4): RFC4 is a component of the replication factor C complex, essential for DNA replication and cell cycle regulation. It facilitates the loading of DNA polymerases onto DNA during replication and repair. Dysregulation of RFC4 can lead to genomic instability and is associated with cancer development.

RFC4

RADX (RADX DNA Repair Helicase): RADX is a protein that plays a key role in DNA repair, particularly in preserving genomic stability during DNA replication. It is involved in the cellular response to DNA damage and helps prevent genomic instability — a major contributor to cancer development. RADX is an important focus in understanding DNA repair mechanisms and advancing cancer research.

RADX

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator): RALGDS is a guanine nucleotide exchange factor that regulates the activation of Ral GTPases. It plays a key role in signal transduction pathways, influencing cell growth, differentiation, and survival. Changes in RALGDS activity have been associated with cancer development and progression.




RALGDS

ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene associated with signal transduction and may play a role in regulating dopamine receptors, which are essential for brain function. Variants near ANKK1 have been linked to neuropsychiatric disorders and addiction, potentially due to their impact on dopamine signaling.

ANKK1

TMEM51 (Transmembrane Protein 51): TMEM51 is a protein associated with membrane organization and intracellular trafficking. While its precise functions remain unclear, it is thought to be involved in intracellular transport and cell signaling pathways.

TMEM51

TMEM258 (Transmembrane Protein 258): TMEM258 is a component of the oligosaccharyltransferase complex, which is involved in N-linked glycosylation — a critical process for proper protein folding and stability. It plays a role in maintaining endoplasmic reticulum function and may be linked to various physiological processes and diseases associated with protein misfolding.




TMEM258

PSAP (Prosaposin): PSAP is a precursor protein that is processed into saposins, which are essential for the breakdown of lipids within lysosomes. These saposins play a key role in preventing the accumulation of complex lipids in cells. Deficiencies or mutations in PSAP can lead to lysosomal storage disorders, including Gaucher disease, Fabry disease, and metachromatic leukodystrophy.



PAFAH1B2

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