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Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Fatigue Test

DPYSL5 (Dihydropyrimidinase Like 5): DPYSL5 is a protein family member involved in neurodevelopment, especially in axonal growth and guidance. It contributes to neuronal repair and has been researched for its significance in neurodegenerative diseases.

DPYSL5

CDC5L (Cell Division Cycle 5-Like): CDC5L plays a vital role in regulating cell cycle progression and pre-mRNA splicing. It is part of a complex that maintains genomic stability and ensures accurate chromosome segregation during cell division. Mutations or alterations in CDC5L expression can disrupt cell cycle control, leading to cellular abnormalities and potentially contributing to cancer development. Research on CDC5L aims to understand its role in cell cycle regulation and its implications for cancer therapy.

CDC5L

AQP10 (Aquaporin 10): AQP10 is a member of the aquaporin family of water channels, involved in the transport of water and small solutes across cell membranes. It is primarily expressed in the intestine and contributes to water absorption and gastrointestinal function. While its precise physiological roles are still being studied, AQP10 likely helps maintain water and electrolyte balance, with potential relevance to gastrointestinal health and disorders.

AQP10

CDH12 (Cadherin 12): CDH12 is a member of the cadherin superfamily, proteins that facilitate cell-to-cell adhesion. It is predominantly expressed in the nervous system and plays a crucial role in neural development and connectivity. Changes in CDH12 have been associated with neurodevelopmental disorders due to its impact on brain structure and function.

CDH12

NRSN1 (Neurensin 1): NRSN1 is a neuronal protein that may play a role in synaptic function and plasticity. While its exact function in the brain is not completely understood, it is believed to aid in the regulation of neurotransmitter release and neuronal signalling, with potential implications for learning and memory.

NRSN1

FANCC (Fanconi Anemia Complementation Group C): FANCC is a gene that encodes a protein involved in the Fanconi anemia (FA) pathway, which is vital for DNA repair and maintaining genomic stability. Mutations in FANCC can cause Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and a heightened risk of cancer.

FANCC

RBFOX1 (RNA Binding Fox-1 Homolog 1): RBFOX1 is an RNA binding protein that plays a crucial role in regulating alternative splicing. It affects the diversity and function of mRNA transcripts in the nervous system and skeletal muscle. By targeting a broad range of pre-mRNAs, RBFOX1 modulates splicing patterns to control gene expression vital for neuronal development, synaptic function, and muscle cell differentiation. Proper RBFOX1 activity is essential for the development of the central nervous system, and its dysregulation has been associated with neurological disorders such as epilepsy and autism spectrum disorders.

RBFOX1

IL17RA (Interleukin 17 Receptor A): IL17RA is a component of the receptor complex for interleukin 17 (IL-17), a cytokine that plays a key role in mediating inflammatory and immune responses. IL17RA signalling is essential for defence against extracellular pathogens and is implicated in the development of several autoimmune and inflammatory diseases, including psoriasis, rheumatoid arthritis, and ankylosing spondylitis. Therapeutic targeting of IL17RA and the IL-17 pathway is a focus of ongoing research for the treatment of these conditions.

IL17RA

MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is a crucial part of the MAPK signalling pathway, which controls vital cellular processes such as proliferation, differentiation, and response to stress. Mutations in MAP3K1 may lead to developmental disorders and are linked to various types of cancer.

MAP3K1

KLRK1 (Killer Cell Lectin Like Receptor K1): KLRK1 is a gene that encodes an activating receptor found on natural killer (NK) cells and certain T cells. It plays a crucial role in immune surveillance by detecting stress-induced ligands on target cells, which prompts the removal of infected or altered cells. KLRK1 is vital for the body's defense against viral infections and specific types of cancer.

KLRK1

KIF1A (Kinesin Family Member 1A): KIF1A is a neuron-specific motor protein essential for axonal transport, a process critical for proper neuron function and survival. KIF1A plays a key role in neural development and maintenance, and mutations in this protein are linked to neurodegenerative diseases and developmental neurological disorders.

KIF1A

MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5): MAP4K5 is a gene that encodes a protein involved in the MAP kinase signaling cascade, transmitting signals from the cell surface to the nucleus. It influences cellular responses such as inflammation, stress reactions, and immune regulation, and may play a role in autoimmune disease processes.

MAP4K5

CD36 (Cluster of Differentiation 36): CD36 is a multifunctional protein that serves as a receptor for various ligands, including oxidised LDL, fatty acids, and phospholipids. It plays crucial roles in fatty acid metabolism, inflammation, and the development of atherosclerosis. CD36’s role in lipid metabolism and its contribution to cardiovascular diseases and metabolic syndrome make it a significant focus of medical research.

CD36

RAD52 (RAD52 Homolog, DNA Repair Protein): RAD52 is a gene that encodes a protein crucial for repairing DNA double-strand breaks, thereby helping to maintain genomic stability. It plays a key role in the homologous recombination repair pathway, ensuring precise DNA repair during cell division. Mutations in RAD52 can lead to genomic instability, increasing the risk of cancer and certain inherited disorders.

RAD52

TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor that plays a crucial role in regulating the growth and development of bone, hair, and connective tissue. Mutations in TRPS1 result in Tricho-Rhino-Phalangeal Syndrome, which is marked by craniofacial and skeletal abnormalities. Understanding the function of TRPS1 is essential for diagnosing and managing this syndrome, with ongoing research focusing on its role in tissue development and differentiation.

TRPS1

MCFD2 (Multiple Coagulation Factor Deficiency 2): MCFD2 is a gene that encodes a protein essential for the transport and proper folding of coagulation factors V and VIII, which are critical for blood clotting. Mutations in MCFD2 can lead to combined factor V and VIII deficiency, a rare bleeding disorder, highlighting its important role in haemostasis and the impact of disrupted protein transport on blood clotting.

MCFD2

HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene that plays a crucial role in liver development and function. It encodes a transcription factor responsible for regulating the expression of genes involved in liver formation, glucose metabolism, and lipid metabolism. Mutations in HNF4A can result in metabolic disorders, including maturity-onset diabetes of the young (MODY).

HNF4A

OAT (Ornithine Aminotransferase): OAT is a gene that encodes the ornithine aminotransferase enzyme, which plays a crucial role in the urea cycle. This enzyme catalyses the conversion of ornithine to citrulline, assisting the body in detoxifying ammonia. Mutations in OAT can disrupt this process, leading to hyperammonemia — a condition characterised by elevated blood ammonia levels that can impact neurological function.

ERMP1 (Endoplasmic Reticulum Metallo Protease 1): ERMP1 is a gene that encodes a protein involved in the processing and maturation of proteins within the endoplasmic reticulum (ER). It helps maintain protein homeostasis by degrading misfolded or unassembled proteins, supporting proper ER function. ERMP1 plays a role in cellular processes such as immune response and ER-associated degradation (ERAD), and its dysregulation can contribute to diseases like neurodegeneration and cancer.

ERMP1

TMEM116 (Transmembrane Protein 116): TMEM116 is a gene that encodes a transmembrane protein involved in various cellular processes. Although its precise function is still under investigation, TMEM116 is believed to play a role in cellular transport and signalling pathways, including membrane dynamics, vesicle trafficking, and ion channel regulation. Recent studies indicate it may contribute to cellular homeostasis and intracellular communication, with dysregulation of TMEM116 potentially affecting multiple physiological functions.

TMEM116

CDH19 (Cadherin 19): CDH19 is a member of the cadherin family, essential molecules that facilitate cell-cell adhesion and maintain tissue integrity. CDH19 plays a significant role in the nervous system by supporting neuron-neuron interactions and aiding neural development. It has also been researched in relation to neurodevelopmental disorders, including autism spectrum disorders.

CDH19

RPA2 (Replication Protein A2): RPA2 is a subunit of the Replication Protein A (RPA) complex and plays a crucial role in DNA replication, repair, and recombination. RPA2 helps stabilise and protect single-stranded DNA (ssDNA) during replication, preventing degradation and aiding the recruitment of other DNA repair proteins. Through these actions, it ensures proper DNA damage response and contributes to genomic stability. Additionally, RPA2 is involved in other cellular processes, including telomere maintenance and DNA damage checkpoints.

RPA2

RREB1 (Ras Responsive Element Binding Protein 1): RREB1 is a gene that encodes a transcription factor that binds to the Ras-responsive element (RRE). It plays a role in regulating gene expression in response to Ras signaling and is involved in cell growth and proliferation.

RREB1

MFF (Mitochondrial Fission Factor): MFF is a protein that plays a crucial role in mitochondrial dynamics, especially in the process of mitochondrial fission. By recruiting dynamin-related protein 1 (Drp1) to the outer mitochondrial membrane, MFF aids in the division of mitochondria, which is vital for proper mitochondrial distribution, quality control, and energy metabolism. This process supports cell health, growth, and adaptation to metabolic demands. Dysregulation of MFF can disrupt mitochondrial shape and function, impacting cellular energy balance and contributing to disease.

GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3): GALNT3 is a gene that encodes a protein involved in O-linked glycosylation, which adds N-acetylgalactosamine to proteins. This modification is crucial for proper protein function and cell signalling. Mutations in GALNT3 can disrupt calcium and phosphate balance, causing disorders such as familial tumoral calcinosis.

GALNT3

STXBP5 (Syntaxin Binding Protein 5): STXBP5 is a protein that plays a crucial role in regulating neurotransmitter release at synapses. It interacts with elements of the SNARE complex, aiding vesicle trafficking and exocytosis. STXBP5 is vital for proper synaptic function and has been associated with neurological disorders.

STXBP5

MYH15 (Myosin Heavy Chain 15): MYH15 is a gene that encodes a myosin heavy chain protein, primarily expressed in skeletal muscle. Myosins are motor proteins essential for muscle contraction and cellular movement. While the specific functions of MYH15 are still under investigation, it may play a role in muscle development and overall muscle function.

MYH15

HSD17B13, also known as Hydroxysteroid 17-beta dehydrogenase 13, is an enzyme predominantly found in the liver and plays a role in the metabolism of steroid hormones and fatty acids. It is part of the hydroxysteroid (17-beta) dehydrogenase (HSD17B) family, which catalyses the conversion of hydroxysteroids to ketosteroids and the reverse. HSD17B13 is crucial for fatty acid metabolism, especially in the oxidation of long-chain fatty acids, and is localised to the peroxisomes — cellular organelles tasked with fatty acid processing. Its enzymatic function is vital for converting long-chain fatty acyl-CoAs into 3-ketoacyl-CoAs, supporting liver health and lipid metabolism.

HSD17B13

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a crucial role in brain development, especially in regulating brain size. It is involved in the DNA damage response and the control of the cell cycle. Mutations in MCPH1 can cause microcephaly, underscoring its vital role in neurodevelopment.

MCPH1

CNTNAP2, also known as Contactin Associated Protein-Like 2, is a cell adhesion molecule that belongs to the neurexin superfamily. It plays a key role in the development and function of the nervous system, particularly in neuronal migration, axon guidance, synapse formation, and signal transmission. CNTNAP2 is predominantly expressed in the developing nervous system, where it interacts with other cell adhesion molecules, extracellular matrix proteins, and signalling molecules to regulate proper neuronal positioning and axonal pathfinding. Dysregulation of CNTNAP2 expression or function can impact brain development and neural connectivity.

CNTNAP2

LRRC42 (Leucine-rich repeat-containing protein 42): LRRC42 is a gene that encodes a protein belonging to the leucine-rich repeat (LRR) family, characterised by repeating sequences rich in leucine residues. Predominantly located in the cytoplasm or on the cell membrane, LRRC42 is involved in cellular processes such as signal transduction, protein-protein interactions, and cell adhesion. Its LRR domains serve as interaction interfaces, enabling LRRC42 to bind specific partner proteins and participate in diverse cellular pathways.

LRRC42

KIAA1109: KIAA1109 is a gene linked to various autoimmune conditions, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. Although its precise function is not completely understood, it is believed to play a crucial role in immune regulation and the body’s inflammatory responses. Research on KIAA1109 is vital for comprehending the genetic foundations of autoimmune disorders and for aiding the development of targeted treatments.

KIAA1109

UBLCP1 (Ubiquitin Like Domain Containing CTD Phosphatase 1): UBLCP1 is a protein that indicates the activity of a phosphatase involved in regulating RNA polymerase II, a key enzyme in transcription. UBLCP1 plays a vital role in dephosphorylating the C-terminal domain of RNA polymerase II, affecting gene expression and influencing various cellular processes and disease pathways.

UBLCP1

POC1B (POC1 Centriolar Protein B): POC1B is a protein that plays a crucial role in the structure and function of centrioles, which are essential cellular components. Centrioles are vital for cell division, organising the microtubule cytoskeleton, and the formation of cilia and flagella. POC1B aids in centriole assembly and maintenance, supporting accurate chromosome segregation and proper progression of the cell cycle. It also plays an important role in ciliogenesis, which is key for functions such as fluid movement in the respiratory tract, sperm motility, and sensory signal transduction.

POC1B

PPARG (Peroxisome Proliferator-Activated Receptor Gamma): PPARG is a nuclear receptor that regulates the expression of genes involved in fatty acid storage, glucose metabolism, and adipocyte differentiation. It plays a central role in insulin sensitivity and is targeted by thiazolidinediones, a class of antidiabetic drugs. Its involvement in metabolic pathways makes it an important gene in the study of obesity, diabetes, and cardiovascular disease.

PPARG

KCNJ3 (Potassium Voltage-Gated Channel Subfamily J Member 3): KCNJ3, also known as GIRK1 (G protein-activated inwardly rectifying potassium channel 1), is a gene that encodes a protein involved in regulating neuronal excitability and heart rate. By controlling potassium ion flow, KCNJ3 helps stabilise the resting membrane potential and modulates action potentials in neurons and cardiac muscle cells. Dysregulation of KCNJ3 may contribute to neurological disorders, such as epilepsy and mood disorders, as well as cardiovascular diseases.

KCNJ3

KRT72 (Keratin 72): KRT72 is a gene that encodes a type II keratin, a vital component of the cytoskeletal structure in epithelial cells. It plays a crucial role in maintaining the structural integrity and proper function of hair follicles. Mutations in KRT72 are frequently associated with hair disorders, underscoring its essential role in hair formation and maintenance.

KRT72

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

ASB13

SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, that plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodeling, 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, highlighting 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 regulating the cell cycle, apoptosis, and cellular transformation. As a transcription factor, it controls the expression of numerous genes involved in crucial 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 vital 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, 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, abbreviated from SRY (Sex Determining Region Y)-Box 2, is a crucial transcription factor involved in embryonic development, stem cell pluripotency, and tissue homeostasis. Predominantly found in the cell nucleus, SOX2 regulates gene expression by binding to specific DNA sequences and controlling the activity of target genes. It plays a significant role in maintaining stem cell pluripotency and self-renewal, working in conjunction with other transcription factors such as OCT4 and NANOG to form a core network that sustains 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 essential developmental processes. It plays a key role in the formation of lymphatic vessels, liver development, and determination of cell fate. Within the lymphatic system, PROX1 functions as the master regulator of differentiation and maintenance of lymphatic endothelial cells.

PROX1

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which plays a role in regulating RNA stability and translation. While 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 can provide significant 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 assists 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 neurons, and its dysregulation may be linked to neurological disorders.

PDZD2

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in regulating cell proliferation and may have a role in cell development and differentiation. Although its function has been less explored, it seems essential for normal cellular activities and possibly for maintaining cell integrity. Current research aims to define its exact functions and how disruptions in its regulation might influence disease processes, including 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 remodeling. KAT2B has been linked to cancer development and certain developmental disorders.

KAT2B

MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein that belongs to a family characterised by maestro heat-like repeats, believed to be involved in lipid metabolic processes. Although its exact functions are not fully understood, MROH2A may play a role in cellular lipid metabolism and could be linked to metabolic disorders. Researching its role could offer valuable insights into metabolic regulation and mechanisms of lipid-related diseases.

MROH2A

MAP7 (Microtubule-Associated Protein 7): MAP7 is a protein that helps stabilise microtubules and interacts with motor proteins. It affects cell movement and organisation and plays a role in processes like mitosis and intracellular transport. MAP7 is crucial for maintaining the structure and dynamics of cells.

MAP7

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

RSU1

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, which are essential components of the extracellular matrix. It catalyses the addition of xylose to specific serine residues, a crucial step in the formation of connective tissues. Mutations in XYLT1 can lead to 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 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 that plays a crucial role in the recruitment and activation of eosinophils, basophils, and T cells, contributing significantly to inflammatory responses and the pathology of allergic diseases. It acts as the principal receptor for eotaxin, a chemokine responsible for eosinophilic inflammation observed in conditions like asthma and allergic rhinitis. Dysregulation of CCR3 signaling can exacerbate allergic and inflammatory disorders, highlighting its potential as a 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 key role in controlling gene expression. Dysregulation of SETD7 activity has been linked to 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 linked to developmental disorders and certain diseases.

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a part of the 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 can 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 signaling. Mutations in LRRC6 can lead to ciliopathies, a group of genetic disorders characterised by ciliary dysfunction and a variety of clinical symptoms.

LRRC6

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

ETS2

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that codes for a protein linked to the nuclear envelope, playing a key role in the structure and organization of the nucleus. Mutations in LEMD3 are associated with Buschke-Ollendorff syndrome, a rare genetic condition affecting both bone and skin.

LEMD3

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic 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 crucial role in cell growth, differentiation, and tissue repair. It is vital for normal development, and mutations in FGFR2 are associated with several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being involved in certain cancers.

FGFR2

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a vital role in the initiation of translation, the fundamental 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, collaborating with 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, characterized by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is vital for determining B-cell lineage commitment during hematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their progression from hematopoietic 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 crucial for glycoprotein processing, and mutations in COG1 can impair Golgi activity, resulting in congenital disorders of glycosylation—a group of metabolic disorders that lead to 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 crucial 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 stands out as a key 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 reflects inflammation in the body. Elevated CRP levels can indicate 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 well 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 like aldosterone, NR3C2 undergoes a conformational change and moves 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 hematopoiesis and the development of certain cancers, especially myeloid leukemia. It encodes EVI1, a protein that functions 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 acts as a transcription factor. It plays a crucial role in mediating the effects of estrogen, a steroid hormone, across different tissues in the body. ESR1 is vital for regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 stays in the cytoplasm in an inactive state, attached to heat shock proteins. When estrogen binds, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to regulate gene transcription.

ESR1

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene involved in regulating 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, helping in the response to infection and injury. It binds to pathogens and damaged cells to aid their removal and is also involved in amyloid plaque formation, connecting it to diseases like Alzheimer’s. Its functions in immune modulation and inflammation make it a focus of therapeutic research.

APCS

TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is a gene thought to act as a tumor suppressor, involved in regulating cell growth and promoting apoptosis. Lower expression of TUSC1 has been detected in several cancers, indicating its possible protective role against cancer development.

TUSC1

TFRC (Transferrin Receptor): TFRC is a measure that reflects the activity of a key protein responsible for maintaining iron balance 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 recognised as a marker of cellular growth, with irregularities linked to conditions such as anaemia and cancer.

TFRC

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes 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 hematological 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 fully understood. Like many proteins of this kind, it may be involved in cellular signaling or transport mechanisms.

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 exact functions are still under investigation, 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 a vital role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, thereby controlling the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been linked to autoimmune diseases, chronic inflammation, and cancer, highlighting its role in immune regulation and disease progression.

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 through 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 maintaining 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 vital for shaping chromatin structure and managing gene expression. Mutations in POGZ are linked to neurodevelopmental disorders, underscoring its significance in brain development and function.

POGZ

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation process 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 lead to 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 plays a role in purine metabolism. It is crucial in the breakdown of adenosine, a molecule vital 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 crucial role in signalling pathways, including Wnt signalling. It is essential for tissue development, maintenance, and homeostasis, and has been researched for its functions 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 precise functions are not yet completely understood, Tex26 is regarded as significant in reproductive biology and may be relevant 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 crucial role in ensuring proper cell division and has been studied in the context of cancer, where disruptions in cell cycle control are commonly observed.

MPHOSPH6

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which act as alternative energy sources produced during fasting or periods of low carbohydrate intake. It plays a 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 functions and contributes to 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 synchronizing biological processes with the environmental light-dark cycle.

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that indicates the body’s mechanisms for extracellular matrix stabilization and inflammation regulation. It plays a crucial role in tissue remodelling and repair, and dysregulation of ITIH1 has been linked 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 key 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 associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.

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