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Venous blood

TCN1 encodes the protein haptocorrin, also known as transcobalamin I, which binds vitamin B12 (cobalamin) in the 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 handling.

TCN1

The SLC19A1 gene encodes the reduced folate carrier 1 (RFC1), an essential transporter responsible for the uptake of folate and its derivatives into cells. This transport mechanism is crucial for cellular absorption of folate, which is necessary for DNA synthesis, repair, methylation processes, and the formation of red blood cells. Variations in this gene may hinder folate transport, potentially causing reduced intracellular folate despite adequate dietary intake. Such impairments have been associated with developmental disorders, fatigue, cognitive difficulties, and increased homocysteine levels.

SLC19A1

The PDXK gene encodes 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 reactions, many involved in amino acid metabolism, neurotransmitter synthesis, and energy production. Variants in the PDXK gene may disrupt this conversion, potentially causing a functional vitamin B6 deficiency despite adequate B6 intake. Altered PLP levels have been associated with neurological symptoms, fatigue, and mood disorders.

PDXK

The MTHFD1L gene encodes a mitochondrial enzyme involved in the folate cycle and one-carbon metabolism, specifically in the conversion of 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 affect mitochondrial folate metabolism and have been associated with an increased risk of neural tube defects, cardiovascular issues, and impaired methylation. It plays a complementary role to the cytosolic MTHFD1 gene but operates within the mitochondria.

MTHFD1L

The TYMS gene encodes thymidylate synthase, a crucial enzyme involved in the synthesis of thymidine, one of the four nucleotides essential 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 modify the body's response to folate or folate-based treatments. Such alterations may contribute to impaired DNA synthesis, increased vulnerability to certain diseases, or varied responses to chemotherapy or supplementation.

TYMS

The MTHFS gene encodes methenyltetrahydrofolate synthetase, an enzyme involved in folate metabolism. It plays a crucial 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 maintain 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 issues such as impaired detoxification, fatigue, or mood imbalance.

MTHFS

The TCN2 gene encodes transcobalamin II, a protein responsible for transporting vitamin B12 (cobalamin) from the bloodstream into cells. Once vitamin B12 is absorbed in the gut, it must bind to transcobalamin to be delivered to tissues where it is used for DNA synthesis, red blood cell formation, and neurological function. Genetic variations in TCN2 can reduce the efficiency of B12 transport, potentially leading to functional B12 deficiency even when blood levels appear normal. This may contribute to symptoms like fatigue, cognitive changes, or elevated homocysteine.

TCN2

AHCY: Encodes the enzyme adenosylhomocysteinase, which plays a crucial role in converting S-adenosylhomocysteine into homocysteine, a vital step in the body's methylation processes and detoxification.

AHCY

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is an enzyme from the aldehyde dehydrogenase family that catalyses the oxidation of retinaldehyde to retinoic acid, the active form of vitamin A. This conversion plays a crucial role in developmental processes such as embryogenesis, tissue patterning, and organ formation, as it regulates gene expression and cell differentiation through retinoic acid signalling. 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 crucial role in the development of the skull and limbs. Mutations in this gene are associated with craniofacial deformities and skeletal abnormalities, highlighting its significance in bone formation and morphogenesis.

ALX4

AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a crucial protein that regulates autophagy, the process through which cells break down and recycle their own components. It aids cell survival under stress by collaborating with BECN1 (Beclin 1) to trigger the formation of autophagosomes. Proper functioning of AMBRA1 is vital for maintaining cellular homeostasis, and its malfunction has been linked to 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, particularly those involving expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder characterised by progressive loss of motor coordination and balance. Studying ATXN1 is crucial for understanding SCA1 and developing potential treatments for related neurological disorders.

ATXN1

ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter located in the liver cell membrane. It plays a crucial 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

AHSG (Alpha-2-HS-Glycoprotein), also known as fetuin-A, is a glycoprotein involved in various physiological processes, including inhibition of mineralisation 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 regulating cell volume and electrical activity. This subunit affects the pump’s function and specificity, aiding muscle activity, nerve transmission, and kidney filtration. Changes in ATP1B3 may be associated with cardiovascular and neurological conditions.

ATP1B3

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

HORMAD1

HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is an essential gene involved in purine metabolism. It catalyses the conversion of hypoxanthine to inosine monophosphate (IMP), a key precursor for purine nucleotide synthesis. Mutations in HPRT1 can result in Lesch-Nyhan syndrome, a rare genetic disorder associated with neurological and behavioural abnormalities.

HPRT1

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

SERTAD2

PKP4 (Plakophilin 4): PKP4 is a protein that supports cell–cell adhesion, particularly within desmosomes — specialised structures that link neighbouring cells. It helps maintain tissue integrity, especially in areas exposed to mechanical stress. Mutations in PKP4 can disrupt this function, contributing to certain skin and cardiac disorders.

PKP4

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

THADA

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

SCAMP1

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

COL11A1

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

GPR139 is a G protein-coupled receptor (GPCR) primarily expressed 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 reducing neuronal excitability.

GPR139

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

APEH

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

SCARB1

KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, regulating their activity. It plays a vital role in cellular processes such as signal transduction and ion transport. Mutations in KCTD1 are linked to developmental disorders, especially those affecting the skin and hair.

KCTD1

NCOR1 (Nuclear Receptor Corepressor 1) is a protein that plays a vital 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 acts 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 assists in forming repressive chromatin structures, resulting in decreased gene transcription.

NCOR1 

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

TWIST1

RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signalling 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 signalling is associated with 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 family of proteins. It plays a role in neuronal development and synaptic function, contributing to the formation and maintenance of neural circuits. Dysfunction in LRFN5 may be linked to neurodevelopmental disorders.

LRFN5

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

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

MITF

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 signalling 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.

TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. Although its specific functions are not yet fully understood, transmembrane proteins typically play key roles in cell signaling, molecule transport across membranes, and cellular communication. Further studies are required to define 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 to nicotinamide mononucleotide. NAD+ is vital for energy metabolism, DNA repair, and cellular signalling. Through its function in NAD+ production, NMRK1 is essential for maintaining cellular energy balance and genomic stability, with implications for ageing, 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 key role in cytokine signalling pathways and is essential for the activation of immune and blood-forming (haematopoietic) cells. Mutations in JAK2 are linked to blood disorders, including polycythaemia 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 crucial role in the development and maintenance of dopaminergic neurons in the brain. It is involved in neuroprotection and has been studied for its significance in 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 that methylates specific nucleotides in 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 capability to metabolise homocysteine, a process vital for cardiovascular and neurological health. BHMT catalyses the conversion of homocysteine to methionine using betaine as a methyl donor. Dysregulation of BHMT can cause elevated homocysteine levels, which are linked with cardiovascular diseases 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 signalling by serving as a GTPase-activating protein for members of the Arf and Rho families. It is significant for regulating cell migration and cytoskeletal organisation, with potential implications in cancer metastasis and cellular morphology.

ARAP2

ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1): ALDH7A1 is an enzyme that plays a role in aldehyde metabolism and is essential for detoxifying pyridoxal-5'-phosphate, a form of vitamin B6. Proper functioning of ALDH7A1 is crucial for normal lysine metabolism, and a deficiency in this enzyme can result in pyridoxine-dependent epilepsy, a condition where seizures respond to vitamin B6 treatment.

ALDH7A1

ACKR2 (Atypical Chemokine Receptor 2): ACKR2, also known as D6, is a receptor that operates unconventionally by scavenging chemokines from its surroundings rather than transmitting signals via traditional pathways. This function is crucial for regulating inflammatory responses and preserving immune system balance. By removing chemokines, ACKR2 plays a vital role in controlling inflammation and is associated with several inflammatory diseases, 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 subsequent degradation in the proteasome. TRIM63 is significant in conditions involving muscle wasting, including cachexia, sarcopenia, and heart failure. 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 significance of post-transcriptional modification in transfer RNA (tRNA). TRMT6 is part of the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and facilitates the methylation of specific nucleotides within tRNA molecules. This modification, especially at the wobble position of adenosine residues, is essential for the precise and efficient translation of mRNA into protein, aiding the stabilization of codon-anticodon pairing and ensuring accuracy 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 acts as an E3 ubiquitin ligase, playing a role in transcriptional regulation and DNA repair. It is crucial in chromatin remodeling, stem cell differentiation, and the inhibition 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 codes for a transcription factor crucial for gastrointestinal development and homeostasis. It assists in regulating 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 crucial protease inhibitor in the body, also known as alpha-1-antitrypsin. Mainly produced in the liver, it plays an important role in safeguarding the lungs against neutrophil elastase. A deficiency in SERPINA1 can cause alpha-1-antitrypsin deficiency, a genetic disorder linked to lung diseases like emphysema and COPD, as well as liver conditions. It is vital for maintaining proteolytic activity balance in lung tissues.

SERPINA1

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a protein involved in several cellular processes, including stress response, cell proliferation, and metabolism. It acts as a regulator of signalling pathways and is associated with 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 crucial role in regulating multiple cellular signalling 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 signalling. 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 involved in regulating the Na+/K+ ATPase, which is essential for maintaining ion gradients across cell membranes. Its role is critical for neuronal activity, particularly in managing neuronal excitability and signal transmission. Dysfunction in NKAIN3 may affect neural communication and have implications for 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, particularly leukemia.

TRIB2

FBOX21 (F-Box Protein 21): FBOX21 is a member of the F-box protein family, which plays a crucial role in the ubiquitin-proteasome system responsible for protein degradation. This system is vital for regulating protein levels within cells, affecting processes such as cell cycle progression, signal transduction, and apoptosis. FBOX21 specifically facilitates the targeting of proteins for degradation, thereby maintaining cellular homeostasis. Dysregulation of FBOX21 can lead to diseases, including cancers, where abnormal protein accumulation or degradation drives the progression of the disease.

FBOX21

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE is a parameter indicating 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 found 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 against oxidative stress. Deficiencies in NNT can compromise mitochondrial function and heighten susceptibility to oxidative damage, contributing to metabolic disorders and chronic illnesses.

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 vital role in mitochondrial protein synthesis, facilitating the translation process within mitochondria. It is crucial for proper mitochondrial function and energy production, with potential relevance in mitochondrial disorders and conditions linked to impaired energy metabolism.

TUFM

TUB (Tubby Bipartite Transcription Factor): TUB is a gene that encodes the Tubby bipartite transcription factor, which plays a crucial 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 problems.

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 signalling, and plays 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, compromised 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 signalling pathways that control cell growth and survival. It is involved in membrane trafficking, insulin signalling, 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 denotes its function in transcriptional coactivation. It interacts with several transcription factors to boost their activity, thereby affecting gene expression patterns. MAML3 plays a crucial 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 key role in the processing of prelamin A, the precursor to lamin A, which is an essential structural component of the nuclear envelope. Proper PRELID1 function is critical for maintaining nuclear structure and integrity, and alterations in this gene may affect nuclear organisation 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 significant in research related to neurodegenerative diseases such as Alzheimer's.

PRIMA1

MDFI (MyoD Family Inhibitor): MDFI is a gene that plays a role in regulating muscle differentiation and development. It acts as an inhibitor of MyoD family transcription factors, which are crucial regulators of myogenesis. By modulating their activity, MDFI helps control the proliferation and differentiation of muscle cells, playing an essential 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 key target for developing obesity treatments.

MC4R

SBF2 (SET Binding Factor 2): SBF2 is a protein that plays a crucial role in the development and functioning of nerves. It is essential for maintaining the structure and health of peripheral nerves. Mutations in SBF2 have been associated with Charcot-Marie-Tooth disease, a hereditary neurological condition that can lead to nerve degeneration, muscle weakness, and loss of sensation.

SBF2

PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2): PPP6R2 is a gene that encodes a regulatory subunit of protein phosphatase 6 (PP6). PP6 participates in the dephosphorylation of target proteins and plays essential roles in regulating the cell cycle, repairing DNA damage, and cellular signalling. PPP6R2 helps regulate the activity and specificity of PP6, impacting these vital cellular processes.

PPP6R2

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

SEMA6D

TIAM2, also known as T-lymphoma invasion and metastasis-inducing protein 2, is a crucial member of the TIAM family of guanine nucleotide exchange factors (GEFs). Predominantly found in the cytoplasm, TIAM2 plays an essential role in regulating cellular functions, particularly those related to cytoskeletal dynamics, cell migration, and invasion. A key characteristic of TIAM2 is its function as a molecular switch activating Rho GTPases, especially Rac1. By means of its GEF activity, TIAM2 promotes the exchange of GDP for GTP on Rac1, initiating downstream signalling pathways that govern actin cytoskeleton rearrangements.

TIAM2

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

HNMT

MAGI3 (Membrane Associated Guanylate Kinase, WW, and PDZ Domain Containing 3): MAGI3 is a scaffolding protein that plays a key role in the assembly of multiprotein complexes at cell junctions and in signal transduction pathways. It is involved in cellular processes such as epithelial cell polarity and may contribute to cancer development, particularly through its roles in cell-cell adhesion and signaling.

MAGI3

RTL1 (Retrotransposon Like 1): RTL1 is a gene thought to have originated from a retrotransposon and plays a crucial role in placental development. It shows imprinted expression, which means it is active from only one parental allele. Dysregulation of RTL1 can lead to disorders linked 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

MKNK2 (MAP Kinase Interacting Serine/Threonine Kinase 2): MKNK2 is a gene that encodes a kinase interacting with MAP kinases. It plays a crucial role in regulating protein synthesis and is involved in various cellular processes, including stress responses and inflammation. Dysregulation of MKNK2 has been linked to cancer and other diseases associated with abnormal signalling pathways.

MKNK2

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

PMAIP1 (Phorbol-12-Myristate-13-Acetate-Induced Protein 1): PMAIP1, also known as Noxa, is a pro-apoptotic protein that plays a crucial role in regulating programmed cell death (apoptosis). It functions within the intrinsic apoptosis pathway and helps initiate cell death in response to cellular stress. PMAIP1 has significant implications in cancer therapy, as its activation can enhance the sensitivity of cancer cells to apoptosis-inducing treatments.

PMAIP1

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

GPR25 (G Protein-Coupled Receptor 25): GPR25 is a receptor that belongs to the family of G protein-coupled receptors. It plays a role in physiological processes like 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 belongs to the tumor necrosis factor receptor (TNFR) superfamily and functions as a receptor for ectodysplasin A2 (EDA-A2), a signalling molecule. EDA2R plays a vital role in mediating EDA-A2 signalling during embryonic development, regulating 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 primarily expressed in immune cells and involved in regulating innate immune responses. It participates in signalling pathways that influence the activation and function of macrophages and B cells. Its role in immune regulation points to potential involvement in inflammatory diseases and makes it a possible target for modulating immune activity in autoimmunity and infection.

LPL

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