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The DNA Methylation Test from GetTested provides a comprehensive analysis of your body’s methylation capabilities by exploring key genes such as MTHFR, COMT, BHMT, and several others. By analyzing these genes, the test offers insights into how your body manages crucial biological processes like gene expression, DNA repair, and detoxification. Methylation plays a vital role in many of the body’s functions and can influence everything from energy production to mental well-being. This test is ideal for those seeking a deeper understanding of their health at a molecular level and wishing to tailor their diet, lifestyle, and potential supplements based on personal genetic predispositions.

<p>The DNA Methylation Test from GetTested provides a comprehensive analysis of your body’s methylation capabilities by exploring key genes such as MTHFR, COMT, BHMT, and several others. By analyzing these genes, the test offers insights into how your body manages crucial biological processes like gene expression, DNA repair, and detoxification. Methylation plays a vital role in many of the body’s functions and can influence everything from energy production to mental well-being. This test is ideal for those seeking a deeper understanding of their health at a molecular level and wishing to tailor their diet, lifestyle, and potential supplements based on personal genetic predispositions.</p>

DNA Methylation Test

ASB13 is a member of the ASB protein family, characterised by ankyrin repeat domains and a SOCS box domain. It plays a key role in the regulation of protein degradation and signal transduction. As an E3 ubiquitin ligase, ASB13 facilitates the tagging and degradation of specific protein targets. Its SOCS box domain interacts with components of the ubiquitin-proteasome system, including E2 enzymes and Cullin-RING ligase complexes, to control targeted protein turnover.

ASB13

SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, which plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodelling, fibrinolysis, and neuronal growth, and helps inhibit enzymes such as thrombin and urokinase-type plasminogen activator, which are important for blood clotting and tissue repair. Dysregulation of SERPINE2 has been linked to cardiovascular and neurological disorders, emphasising its importance in maintaining tissue integrity and function.

SERPINE2

SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A is a gene that encodes the alpha subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in tissues such as the lungs, kidneys, and colon. This subunit is essential for ENaC’s assembly, localisation, and function, enabling sodium absorption that supports blood pressure, fluid volume, and electrolyte balance. Mutations in SCNN1A can alter channel activity and are linked to conditions such as pseudohypoaldosteronism type 1 (PHA1), a disorder affecting salt regulation.

SCNN1A

MYC (MYC Proto-Oncogene, BHLH Transcription Factor): MYC is a well-known oncogene that plays a central role in cell cycle regulation, apoptosis, and cellular transformation. As a transcription factor, it controls the expression of numerous genes involved in key cellular processes. Overexpression of MYC is common in many cancers, making it a major focus of oncology research. Understanding MYC regulation and its pathways is critical for developing targeted cancer therapies, as its dysregulation contributes to tumour growth, progression, and treatment resistance.

NTM (Neurotrimin): NTM is a neural cell adhesion molecule involved in the formation of neural networks. It plays a key role in neural development, particularly in neurite outgrowth and synaptic plasticity. Research into NTM helps to better understand neural development mechanisms and its potential links to neurodevelopmental disorders.

SOS2 (Son of Sevenless Homolog 2): SOS2 is a protein involved in cell signalling and the activation of the Ras/MAPK pathway. It plays a key role as a mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to diverse physiological processes and cellular functions.

SOS2

CDK17 (Cyclin-dependent kinase 17): CDK17 is a nuclear enzyme belonging to the cyclin-dependent kinase family, which is essential for cell cycle regulation, transcriptional control, and cellular differentiation. Acting as a serine/threonine protein kinase, CDK17 phosphorylates target proteins to modulate their activity. It plays a key role in driving cell cycle progression, particularly in promoting the transition from the G1 phase to the S phase, where DNA replication occurs.

CDK17

JUP (Junction Plakoglobin): JUP is a gene that encodes plakoglobin, a protein found in cell-cell junctions, including desmosomes and adherens junctions. Plakoglobin plays a key role in maintaining the structural integrity of tissues, especially in the skin and heart.

SOX2, short for SRY (Sex Determining Region Y)-Box 2, is a key transcription factor involved in embryonic development, stem cell pluripotency, and tissue homeostasis. Located mainly in the cell nucleus, SOX2 regulates gene expression by binding to specific DNA sequences and controlling target gene activity. It plays a major role in maintaining stem cell pluripotency and self-renewal, working alongside other transcription factors like OCT4 and NANOG to form a core network that preserves the undifferentiated state of embryonic stem cells.

SOX2

PROX1 (Prospero Homeobox 1): PROX1 is a transcription factor that regulates gene expression and is involved in key developmental processes. It plays a central role in lymphatic vessel formation, liver development, and cell fate determination. In the lymphatic system, PROX1 acts as a master regulator of lymphatic endothelial cell differentiation and maintenance.

PROX1

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which is involved in regulating RNA stability and translation. Although the specific functions of LARP4B are still under investigation, LARPs generally contribute to post-transcriptional gene regulation by influencing mRNA stability, translation, and cell growth. Understanding LARP4B may offer valuable insights into gene expression control and its connections to diseases associated with RNA dysregulation.

LARP4B

PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein that aids in organising protein complexes at the cell membrane, supporting signal transduction and cellular communication. It is involved in various cellular functions, including synaptic signalling in neurones, and its dysregulation may be linked to neurological disorders.

PDZD2

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in the regulation of cell proliferation and may have a role in cell development and differentiation. Although its function has been less extensively studied, it appears to be essential for normal cellular functions and potentially for maintaining cell integrity. Ongoing research seeks to clarify its exact roles and how disruptions in its regulation might affect disease processes, such as cancer and developmental disorders.

FAM53A

KAT2B (Lysine Acetyltransferase 2B): KAT2B, also known as PCAF, encodes an enzyme involved in histone acetylation, a process essential for regulating gene expression. It contributes to DNA repair, cell cycle control, and apoptosis, and plays a key role in transcription regulation and chromatin remodelling. KAT2B has been linked to cancer development and certain developmental disorders.

KAT2B

MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein belonging to a family characterised by maestro heat-like repeats, which are believed to be involved in lipid metabolic processes. Although its exact functions remain unclear, MROH2A may play a role in cellular lipid metabolism and could have implications for metabolic disorders. Investigating its role may offer insights into metabolic regulation and lipid-related disease mechanisms.

MROH2A

MAP7 (Microtubule-Associated Protein 7): MAP7 is a protein involved in stabilising microtubules and interacting with motor proteins. It influences cell movement and organisation and plays a role in processes such as mitosis and intracellular transport. MAP7 is important for maintaining cellular structure and dynamics.

MAP7

RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with key signalling molecules, including Ras. It plays an important role in regulating cell adhesion and motility, contributing to various cell signalling pathways. RSU1 may also have implications in cancer progression and metastasis.

RSU1

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, essential components of the extracellular matrix. It catalyses the addition of xylose to specific serine residues, a crucial step in forming connective tissues. Mutations in XYLT1 can cause skeletal and connective tissue disorders, highlighting its significance in tissue development and maintenance.

XYLT1

GJA10 (Gap Junction Protein Alpha 10): GJA10 is a gene that encodes a connexin protein forming gap junction channels for the direct exchange of ions and small molecules between cells. This communication supports tissue homeostasis and coordinated cell activity. In the eye, GJA10 helps maintain lens transparency and function, and mutations have been associated with cataracts and other vision disorders.

GJA10

CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a receptor involved in the recruitment and activation of eosinophils, basophils, and T cells, playing a key role in inflammatory responses and the pathology of allergic diseases. It acts as a primary receptor for eotaxin, a chemokine that drives eosinophilic inflammation seen in conditions such as asthma and allergic rhinitis. Dysregulation of CCR3 signalling can exacerbate allergic and inflammatory conditions, making it a potential target for therapeutic intervention.

CCR3

SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is a gene involved in epigenetic regulation, encoding an enzyme that methylates histone proteins. This modification plays a vital role in controlling gene expression. Dysregulation of SETD7 activity has been associated with various diseases, including cancer and cardiovascular disorders.

SETD7

MAF (MAF BZIP Transcription Factor): MAF is a gene that encodes a transcription factor involved in the development and differentiation of various tissues, including the eye lens and pancreatic beta cells. It regulates gene expression and influences cell fate decisions. Mutations in MAF have been associated with developmental disorders and certain diseases.

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a component of BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a crucial role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 may impact pigmentation and neurological functions.

BORCS7

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a crucial role in cellular movement and signalling. Mutations in LRRC6 can cause ciliopathies, a group of genetic disorders characterised by ciliary dysfunction and a range of clinical symptoms.

LRRC6

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene that encodes a transcription factor from the ETS family. Transcription factors such as ETS2 regulate the expression of specific target genes by binding to particular DNA sequences. ETS2 plays important roles in cellular processes such as cell proliferation, differentiation, and development. Dysregulation of ETS2 has been linked to cancer and developmental disorders.

ETS2

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein associated with the nuclear envelope, playing a role in the structure and organisation of the nucleus. Mutations in LEMD3 have been linked to Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.

LEMD3

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signalling in haematopoietic cells. It plays a key role in maintaining haematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various haematological disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting its importance in blood cell development and immune regulation.

SH2B3

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds fibroblast growth factors and plays a key role in cell growth, differentiation, and tissue repair. It is essential for normal development, and mutations in FGFR2 are linked to several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being implicated in certain cancers.

FGFR2

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a key role in the initiation of translation, the vital process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, enabling ribosomes to access the initiation codon and commence protein production. It functions as part of the eukaryotic translation initiation complex, working alongside other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

EIF4A1

PAX5, also known as Paired Box 5, is a transcription factor that plays a crucial role in B-cell development and differentiation. It is part of the PAX family of transcription factors, characterised by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is essential for determining B-cell lineage commitment during haematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their development from haematopoietic stem cells.

PAX5

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, a vital component for normal Golgi function and protein trafficking within the cell. Proper functioning of COG1 is essential for glycoprotein processing, and mutations in COG1 can impair Golgi activity, leading to congenital disorders of glycosylation—a group of metabolic conditions that result in various developmental issues.

COG1

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in the formation of the dental pellicle and the defence of the oral mucosa. As part of the proline-rich protein family, PRB2 is important for maintaining oral health and protecting against dental caries and other oral diseases.

PRB2

FOXO3 (Forkhead Box O3): FOXO3 is a transcription factor that plays a key role in regulating genes involved in cell cycle arrest, DNA repair, and apoptosis. It is a significant factor in the study of longevity and age-related diseases, influencing pathways that impact the ageing process. In ageing research, FOXO3 is recognised as a central element, with scientists striving to understand its role in the complex mechanisms of life and ageing.

FOXO3

C-reactive protein (CRP) testing measures the level of CRP in the blood, a marker that indicates inflammation in the body. Raised CRP levels can signal acute inflammation, infections, or chronic conditions such as rheumatoid arthritis and heart disease. This test is commonly used to diagnose and monitor inflammatory conditions, detect flare-ups, and assess cardiovascular risk. Regular CRP testing helps guide treatment decisions and evaluate how effectively therapies are reducing inflammation.

NR3C2, also known as Nuclear Receptor Subfamily 3 Group C Member 2 or mineralocorticoid receptor (MR), is a nuclear receptor protein that plays a key role in regulating electrolyte balance and blood pressure. It acts as a ligand-activated transcription factor primarily found in the cytoplasm of target cells. Upon binding to mineralocorticoid hormones such as aldosterone, NR3C2 undergoes a conformational change and translocates into the nucleus to mediate its effects. Its main function includes regulating sodium and potassium ion transport in the kidney, colon, and salivary glands.

NR3C2

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator involved in haematopoiesis and the development of certain cancers, particularly myeloid leukaemia. It encodes EVI1, a protein that plays a role in gene regulation, cell proliferation, and cell differentiation.

MECOM

IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumours.

IL12B

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of oestrogen, a steroid hormone, across various tissues in the body. ESR1 is essential for regulating gene expression in response to oestrogen binding. In the absence of oestrogen, ESR1 remains in the cytoplasm in an inactive state, bound to heat shock proteins. When oestrogen binds, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to influence gene transcription.

ESR1

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene involved in the regulation of cell signalling pathways and has been studied for its potential role in tumour suppression. It participates in receptor internalisation and may influence cellular responses to external signals, including those involved in metabolic regulation.

ARRDC3

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, aiding the response to infection and injury. It binds to pathogens and damaged cells to support their removal and is also involved in amyloid plaque formation, linking it to diseases such as Alzheimer’s. Its roles in immune modulation and inflammation make it a focus of therapeutic research.

APCS

TUSC1 (Tumour Suppressor Candidate 1): TUSC1 is a gene believed to function as a tumour suppressor, playing a role in controlling cell growth and promoting apoptosis. Reduced expression of TUSC1 has been observed in various cancers, supporting its potential protective role against cancer development.

TUSC1

TFRC (Transferrin Receptor): TFRC is a measurement that reflects the activity of a key protein responsible for iron regulation in the body. TFRC facilitates the uptake of transferrin-bound iron into cells and is essential for the production of red blood cells. It is also widely used as a marker of cellular proliferation, with dysregulation associated with conditions such as anaemia and cancer.

TFRC

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyses the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. This activity plays a key role in active DNA demethylation, which is essential for regulating gene expression, guiding cellular differentiation, and maintaining genomic stability. Mutations in TET2 are frequently observed in haematological malignancies, including myelodysplastic syndromes and acute myeloid leukaemia, highlighting its role in epigenetic regulation and cancer development.

TET2

TMEM243 (Transmembrane Protein 243): TMEM243 is a gene that encodes a transmembrane protein whose function is not yet well understood. Like many proteins of this kind, it may have a role in cellular signalling or transport processes.

TMEM243

PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains indicate that the protein plays a role in signalling pathways involved in cell morphology, cytoskeletal organisation, and cellular migration. Although its precise functions are still being investigated, PLEKHG1 is thought to contribute to the regulation of cytoskeletal dynamics and cell motility.

PLEKHG1

NKX2-1, also known as thyroid transcription factor 1 (TTF-1), is a transcription factor that regulates gene expression by binding to specific DNA sequences. A member of the NKX family of homeodomain-containing proteins, it plays a key role in the development and function of the thyroid, lung, and brain. In the thyroid, NKX2-1 is expressed during embryonic development and is essential for the formation and differentiation of thyroid follicular cells.

NKX2-1

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signalling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects on cell signalling pathways.

PTPN7

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyses the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulation and stress responses. Dysregulation of TRDMT1 activity has been linked to diseases including cancer and neurodegenerative disorders.

TRDMT1

NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune diseases, chronic inflammation, and cancer, emphasising its role in immune regulation and disease development.

NFKBIE

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in the assembly of mitochondrial complex I, a crucial component of the mitochondrial respiratory chain. This complex is vital for energy production via oxidative phosphorylation. Mutations or dysregulation of LYRM7 can lead to mitochondrial dysfunction, contributing to metabolic and neurodegenerative disorders. Its role in energy metabolism highlights its significance in sustaining cellular function and viability.

LYRM7

POGZ (Pogo Transposable Element Derived with ZNF Domain): POGZ is a protein containing zinc finger domains that plays a crucial role in chromatin remodelling and gene regulation. It is essential for shaping chromatin structure and controlling gene expression. Mutations in POGZ are linked to neurodevelopmental disorders, emphasising its importance in brain development and function.

POGZ

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation stage of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can result in errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FARSA

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signalling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.

ADAL

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a key role in signalling pathways, including Wnt signalling. It is important for tissue development, maintenance, and homeostasis, and has been studied for its roles in stem cell biology and organ regeneration.

LGR4

Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is believed to play a role in testicular function and development. Although its specific functions are not yet fully understood, Tex26 is regarded as important in reproductive biology and may be significant in fertility-related research.

Tex26

MPHOSPH6 (M-Phase Phosphoprotein 6): MPHOSPH6 is a protein involved in regulating the cell cycle, particularly during mitosis. It plays a vital role in ensuring proper cell division and has been studied in the context of cancer, where disruptions in cell cycle control are a common feature.

MPHOSPH6

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 is a gene that encodes an enzyme involved in the production of ketone bodies — alternative energy sources produced during fasting or low-carbohydrate conditions. It plays a key role in energy metabolism and is primarily expressed in the liver.

HMGCS2

DRD5 (Dopamine Receptor D5): DRD5 is a gene that encodes a receptor similar to DRD1. It plays a role in cognitive and emotional processes and is involved in the brain’s response to neurotransmitters. DRD5 is also a target for certain pharmacological treatments of psychiatric and neurological disorders.

DRD5

PRR11 (Proline Rich 11): PRR11 is a gene that has been recently identified, with functions that are not yet fully understood. It is believed to play a role in cell cycle regulation and has been linked to cancer biology, particularly in processes such as cell proliferation and tumour growth.

PRR11

TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. TEF plays a key role in regulating the circadian rhythm and controlling the expression of clock-dependent genes. It is essential for maintaining daily physiological cycles, including metabolism and hormone secretion. Dysregulation of TEF can affect circadian rhythm-related disorders and metabolic health, highlighting its importance in synchronising biological processes with the environmental light-dark cycle.

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilisation and inflammation regulation. It plays an important role in tissue remodelling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.

ITIH1

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

LRTM1

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a crucial role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been linked to neurodevelopmental disorders and may affect neurological processes such as learning and memory.

CNTN2

ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for the RNA-specific deamination of adenosine. This enzyme catalyses the conversion of adenosine to inosine in RNA molecules, affecting RNA stability, function, and regulation. ADO plays a crucial role in RNA editing, contributing to the diversity and functionality of RNA molecules.

ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule that plays a key role in leukocyte migration and immune system function. It is essential for the immune system to effectively reach and respond to sites of inflammation. Dysregulation of ITGA4 can contribute to autoimmune disorders and affect the efficiency of immune responses.

ITGA4

PRSS3 (Protease, Serine 3): PRSS3 is an enzyme, also known as mesotrypsin, that indicates the activity of a serine protease involved in protein digestion and the degradation of extracellular matrix components. It plays a role in pancreatic function and has been studied in cancer, as abnormal PRSS3 expression or activity may contribute to tumour invasion and metastasis.

PRSS3

HCN4 (Hyperpolarisation Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is an essential protein that forms part of the cardiac pacemaker channels responsible for regulating heart rhythm. It plays a key role in generating and controlling the pacemaker current, which affects heart rate and cardiac output. Mutations in HCN4 are associated with various cardiac arrhythmias, such as bradycardia and heart block, making it an important gene for understanding heart function and related disorders.

HCN4

H3C12 (Histone Cluster 3, H3c12) is a gene that encodes a histone protein, which is essential for DNA packaging within chromosomes. Histones play a key role in regulating gene expression and maintaining chromosome structure. Changes in histone genes such as H3C12 can affect cell function and have been linked to the development of various cancers.

H3C12

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that belongs to the large olfactory receptor family, which is responsible for the sense of smell. These receptors detect volatile odour molecules and are highly diverse, enabling the perception of many different scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a key role in odour detection and signal transmission to the brain. Research on OR2M3 and related receptors helps deepen our understanding of smell and has potential applications in flavour science and sensory biology.

OR2M3

LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a crucial role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule predominantly expressed in the central nervous system. It plays a crucial role in neuronal growth, differentiation, and synaptic plasticity, supporting the formation and maintenance of neuronal networks. NEGR1 facilitates cell-to-cell interactions essential for communication between neurons and the structure of neural tissue. Its involvement in neurodevelopment connects it to brain function, and dysregulation or mutations in NEGR1 have been linked to neurodevelopmental disorders and other conditions.

NEGR1

BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in regulating the circadian rhythm. It plays a key role in controlling the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can affect circadian rhythms and sleep patterns.

BHLHE40

PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a key role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a central player in managing the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and addressing obesity.

PRDM16

NFIA (Nuclear Factor I A) is a transcription factor that plays key roles in regulating gene expression, cellular differentiation, and development. It is primarily located in the nucleus and belongs to the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in controlling transcription. NFIA functions by binding to specific DNA sequences called NFIA recognition elements in gene promoters, influencing gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NFIA

CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein that plays a key role in cell adhesion and migration. It is involved in several important cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. As a primary receptor for hyaluronic acid, CD44 also has significant roles in inflammation and tissue repair.

CD44

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a crucial role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping to maintain a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders such as anaemia and thrombocytopenia, and it also contributes to the development of leukaemia. Its function is vital for maintaining haematopoietic cell balance and underscores the complexity of blood cell production.

GFI1B

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor expressed on the surface of macrophages that plays a role in the immune system’s response to pathogens and particulate matter. It is involved in recognising and clearing bacteria and environmental particles, contributing to innate immunity and the regulation of inflammation.

MARCO

PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene involved in phospholipid metabolism and signalling pathways. Phospholipids are key components of cell membranes and participate in various cellular functions such as signalling and membrane dynamics. PLPPR4 may help regulate specific phospholipid levels, potentially affecting cell function and membrane properties.

PLPPR4

GP2 (Glycoprotein 2): GP2 is a gene that encodes a membrane-bound protein primarily located in the pancreas and involved in immune responses within the gastrointestinal tract. It functions in binding and aggregating bacteria, contributing to the protection of the gut from microbial invasion. Variations in GP2 are researched for their possible associations with pancreatic disorders and inflammatory bowel diseases.

PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can lead to congenital spinal and skeletal malformations.

PAX1

IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor vital for the development and function of immune cells, particularly dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Alterations in IRF8 can impact immune cell differentiation and overall immune function.

IRF8

NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that helps protect cells from oxidative stress by converting quinones into less reactive hydroquinones. This process reduces the formation of harmful reactive oxygen species and supports cellular redox balance. Variations in the NQO1 gene have been linked to cancer risk and increased sensitivity to certain toxins, emphasising its role in detoxification and cellular defence.

NQO1

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a crucial role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the correct secretion and processing of proteins, supporting important cellular functions such as cell signalling, metabolism, and structural maintenance. BET1L’s function in this transport pathway is vital for normal cellular operations and maintaining cellular homeostasis.

BET1L

CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signalling. Calmodulin interacts with various target proteins, regulating their activity based on changes in intracellular calcium levels. CALM1 is essential for many cellular processes, including muscle contraction, neurotransmitter release, and cell growth.

CALM1

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CD40

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in regulating cellular energy. It plays a role in sensing the cell’s energy status and activating pathways that help to restore energy balance.

PRKAG2

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases.

BRSK2

SUOX (Sulfite Oxidase): SUOX codes for an enzyme essential in the metabolism of sulphur-containing amino acids. It catalyses the final step in the breakdown of cysteine and methionine by converting sulphite into sulphate, which is then excreted in the urine. Proper SUOX activity prevents the accumulation of sulphite, which can cause neurological damage and physical abnormalities known as sulphite oxidase deficiency, highlighting the enzyme’s vital role in amino acid metabolism and the prevention of neurotoxicity.

SUOX

OR2B6 is a gene that encodes a protein belonging to the olfactory receptor (OR) family, which is involved in detecting and recognising odour molecules. These receptors are located on the surface of olfactory sensory neurones in the nasal cavity and play a key role in initiating olfactory signal transduction. OR2B6 specifically binds to certain odour molecules, triggering signals that are ultimately transmitted to the brain for odour perception.

OR2B6

CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are linked to catecholaminergic polymorphic ventricular tachycardia, a condition characterised by irregular heartbeats triggered by physical activity or stress.

CASQ2

CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a crucial role in the immune response, including the development of T cell memory. CD28 signalling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.

CD28

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to synthesise new nucleotides. This role in nucleotide metabolism indicates it is important for cell proliferation and DNA repair. Alterations in this pathway can affect cellular energy balance and genomic stability, with potential implications for metabolic health and the DNA damage response.

PRTFDC1

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a key role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring proper localisation and function of proteins within the mitochondria. By supporting these processes, SAMM50 is crucial for cellular energy production and overall mitochondrial function.

SAMM50

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neurodegenerative diseases and cancer, highlighting its importance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumour suppressor gene that produces two proteins, p16INK4A and p14ARF, which are involved in regulating the cell cycle and preventing tumour development. Mutations in CDKN2A are linked to a higher risk of several cancers, including melanoma and pancreatic cancer.

CDKN2A

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein involved in stabilising and connecting microtubules and actin filaments. It plays an important role in cell motility, neuronal development, and cellular signalling. Dysfunction in MACF1 is associated with developmental disorders and may contribute to cancer metastasis.

MACF1

UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, a vital component of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is essential for protein synthesis. Dysfunction in UTP20 can affect cell growth and proliferation, with potential links to developmental disorders and cancer.

UTP20

CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a key receptor in the immune system that directs the migration of T cells and dendritic cells to lymphoid tissues. Its interaction with the ligands CCL19 and CCL21 is vital for coordinating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been associated with autoimmune diseases and cancers, making it an important target in immunotherapy and cancer treatment research.

CCR7

TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signalling pathway, which plays an important role in cell growth and development. Variants in this gene have been strongly linked to an increased risk of type 2 diabetes, likely through their impact on insulin secretion and glucose metabolism. Understanding TCF7L2 is essential for uncovering the genetic basis of diabetes and advancing potential treatments.

TCF7L2

ITGB8 (Integrin Subunit Beta 8): ITGB8 is a protein involved in cell adhesion and signal transduction, mediating interactions between cells and the extracellular matrix. It plays a key role in tissue remodelling, angiogenesis, and brain development by facilitating the activation of transforming growth factor-beta (TGF-beta), a cytokine that regulates cell proliferation, differentiation, and other critical functions. Dysregulation of ITGB8 has been linked to cancer progression, as well as various vascular and neurological disorders, highlighting its essential role in cellular communication and disease.

MTRR

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