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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 Gut Health Test

NRP2 (Neuropilin 2): NRP2 is a receptor involved in angiogenesis and lymphangiogenesis as well as neuronal regulation. It binds to vascular endothelial growth factors and semaphorins, influencing the development of blood vessels and nerves. NRP2 plays a role in carcinogenesis, particularly in tumor angiogenesis and metastasis, as well as in developmental processes....

NRP2

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is a protein involved in meiosis, playing a key role in the formation of the synaptonemal complex. This structure is essential for the pairing and recombination of homologous chromosomes. SYCP2L is important for understanding the mechanisms of genetic recombination and fertility, with potential implications in reproductive biology and related disorders.

SYCP2L

SEMA4B (Semaphorin 4B): SEMA4B  is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 supports the proper synthesis of selenoproteins, which are important for various cellular processes and overall cellular health.

SEMA4B

DPYSL5 (Dihydropyrimidinase Like 5): DPYSL5 is a member of a protein family involved in neurodevelopment, particularly in axonal growth and guidance. It plays a role in neuronal repair and has been studied for its relevance in neurodegenerative diseases.

DPYSL5

CDC5L (Cell Division Cycle 5-Like): CDC5L plays a crucial role in regulating cell cycle progression and pre-mRNA splicing. It is part of a complex involved in maintaining genomic stability and ensuring proper chromosome segregation during cell division. Mutations or changes in CDC5L expression can disrupt cell cycle control, leading to cellular abnormalities and potentially contributing to cancer development. Research on CDC5L focuses on understanding 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 mediate cell-cell adhesion. It is primarily expressed in the nervous system and plays a key role in neural development and connectivity. Alterations in CDH12 have been linked to neurodevelopmental disorders due to its influence 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 precise function in the brain is not fully understood, it is believed to contribute to the regulation of neurotransmitter release and neuronal signaling, 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 essential for DNA repair and maintaining genomic stability. Mutations in FANCC can lead to Fanconi anemia, a rare genetic disorder associated with bone marrow failure, congenital anomalies, and an increased risk of cancer.

FANCC

RBFOX1 (RNA Binding Fox-1 Homolog 1): RBFOX1 is an RNA binding protein that plays a key role in regulating alternative splicing. It influences the diversity and function of mRNA transcripts in the nervous system and skeletal muscle. By targeting a wide range of pre-mRNAs, RBFOX1 modulates splicing patterns to control gene expression important for neuronal development, synaptic function, and muscle cell differentiation. Proper RBFOX1 activity is essential for central nervous system development, and its dysregulation has been linked to 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 signaling is essential for defense 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 key component of the MAPK signaling pathway, which regulates essential cellular processes such as proliferation, differentiation, and stress response. Mutations in MAP3K1 can contribute to developmental disorders and are associated with various types of cancer.

MAP3K1

KLRK1 (Killer Cell Lectin Like Receptor K1): KLRK1 is a gene that encodes an activating receptor present on natural killer (NK) cells and some T cells. It plays a key role in immune surveillance by recognizing stress-induced ligands on target cells, which triggers the elimination of infected or transformed cells. KLRK1 is essential for the body’s defense against viral infections and certain cancers.

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 acts as a receptor for several ligands, including oxidized LDL, fatty acids, and phospholipids. It plays key roles in fatty acid metabolism, inflammation, and atherogenesis. CD36’s involvement in lipid metabolism and its contribution to cardiovascular diseases and metabolic syndrome make it an important focus of medical research.

CD36

RAD52 (RAD52 Homolog, DNA Repair Protein): RAD52 is a gene that encodes a protein essential for repairing DNA double-strand breaks, helping maintain genomic stability. It is particularly involved in the homologous recombination repair pathway, which ensures accurate DNA repair during cell division. Defects in RAD52 can contribute 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 key role in regulating the growth and development of bone, hair, and connective tissue. Mutations in TRPS1 lead to Tricho-Rhino-Phalangeal Syndrome, which is characterized by craniofacial and skeletal abnormalities. Understanding TRPS1’s function is important for diagnosing and managing this syndrome, with ongoing research focused 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 hemostasis and the impact of disrupted protein transport on blood clotting.



MCFD2

HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene that plays a key 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 lead to 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 key role in the urea cycle. This enzyme catalyzes the conversion of ornithine to citrulline, helping the body detoxify ammonia. Mutations in OAT can disrupt this process, leading to hyperammonemia — a condition marked by elevated blood ammonia levels that can affect 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 diverse cellular processes. While its specific function is still being studied, TMEM116 is thought to participate in cellular transport and signaling pathways, including membrane dynamics, vesicle trafficking, and ion channel regulation. Emerging research suggests it may contribute to cellular homeostasis and intracellular communication, and dysregulation of TMEM116 could impact various physiological processes.

TMEM116

CDH19 (Cadherin 19): CDH19 is a member of the cadherin family, which are essential molecules for cell-cell adhesion and tissue integrity. CDH19 plays a particularly important role in the nervous system, supporting neuron-neuron interactions and contributing to neural development. It has also been studied in connection with 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 key role in DNA replication, repair, and recombination. RPA2 helps stabilize and protect single-stranded DNA (ssDNA) during replication, preventing degradation and supporting the recruitment of other DNA repair proteins. Through these actions, it ensures an appropriate response to DNA damage and contributes to genomic stability. Additionally, RPA2 is involved in other cellular processes, including the maintenance of telomeres and DNA damage checkpoints.

RPA2

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

RREB1

MFF (Mitochondrial Fission Factor): MFF is a protein that plays a key role in mitochondrial dynamics, particularly in the process of mitochondrial fission. By recruiting dynamin-related protein 1 (Drp1) to the mitochondrial outer membrane, MFF facilitates the division of mitochondria, which is essential 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, affecting 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, adding N-acetylgalactosamine to proteins. This modification is important for proper protein function and cell signaling. Mutations in GALNT3 can affect calcium and phosphate balance, leading to disorders such as familial tumoral calcinosis.

GALNT3

STXBP5 (Syntaxin Binding Protein 5): STXBP5 is a protein that plays a key role in regulating neurotransmitter release at synapses. It interacts with components of the SNARE complex, supporting vesicle trafficking and exocytosis. STXBP5 is important for proper synaptic function and has been linked to 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 primarily found in the liver and is involved in the metabolism of steroid hormones and fatty acids. It belongs to the hydroxysteroid (17-beta) dehydrogenase (HSD17B) family, which catalyzes the conversion of hydroxysteroids to ketosteroids and vice versa. HSD17B13 plays a key role in fatty acid metabolism, particularly in the oxidation of long-chain fatty acids, and is localized to the peroxisomes — cellular organelles responsible for fatty acid processing. Its enzymatic activity is essential for converting long-chain fatty acyl-CoAs into 3-ketoacyl-CoAs, supporting proper liver function and lipid metabolism.

HSD17B13

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a key role in brain development, particularly in regulating brain size. It is involved in DNA damage response and cell cycle control. Mutations in MCPH1 can lead to microcephaly, highlighting its important 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 signaling 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, characterized 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 associated with a range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its exact function is not fully understood, it is thought to play a key role in immune regulation and the body’s inflammatory responses. Studying KIAA1109 is important for understanding the genetic basis of autoimmune disorders and for guiding the development of targeted therapies.

KIAA1109

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

UBLCP1

POC1B (POC1 Centriolar Protein B): POC1B is a protein that plays a key role in the structure and function of centrioles, essential cellular components. Centrioles are critical for cell division, organization of the microtubule cytoskeleton, and the formation of cilia and flagella. POC1B contributes to centriole assembly and maintenance, supporting accurate chromosome segregation and proper cell cycle progression. It also plays a vital role in ciliogenesis, which is important for processes 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 stabilize the resting membrane potential and modulate 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 key component of the cytoskeletal structure in epithelial cells. It plays an important role in maintaining the structural integrity and proper function of hair follicles. Mutations in KRT72 are often linked to hair disorders, highlighting its essential role in hair formation and maintenance.

KRT72

ASB13 is a member of the ASB protein family, defined 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, 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, localization, 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): The 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 tumor 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 signaling 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 takes place.



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 plays a role in regulating RNA stability and translation. While the specific functions of LARP4B are still being studied, LARPs generally contribute to post-transcriptional gene regulation by affecting mRNA stability, translation, and cell growth. Understanding LARP4B may provide important insights into gene expression control and its links to diseases involving RNA dysregulation.

LARP4B

PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein that helps organize protein complexes at the cell membrane, supporting signal transduction and cellular communication. It is involved in various cellular functions, including synaptic signaling in neurons, and its dysregulation may be associated with neurological disorders.

PDZD2

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in the regulation of cell proliferation and may play a role in cell development and differentiation. Although its function has been less studied, it appears to be crucial for normal cellular functions and possibly for maintaining cell integrity. Ongoing research aims to clarify its precise roles and how its regulatory disturbances may impact 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 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 belonging to a family characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. While its precise functions remain unclear, MROH2A may contribute to cellular lipid metabolism and could have implications for metabolic disorders. Studying its role may provide insights into metabolic regulation and lipid-related disease mechanisms.

MROH2A

MAP7 (Microtubule-Associated Protein 7): MAP7 is a protein involved in stabilizing microtubules and interacting with motor proteins. It influences cell movement and organization 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 signaling molecules, including Ras. It plays an important role in regulating cell adhesion and motility, contributing to various cell signaling 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, which are important components of the extracellular matrix. It adds xylose to specific serine residues in proteoglycans, a crucial step in the formation of connective tissues. Mutations in XYLT1 can lead to skeletal and connective tissue disorders, highlighting its role 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 involved in the recruitment and activation of eosinophils, basophils, and T cells, playing a key role in inflammatory responses and allergic disease pathology. It serves as a primary receptor for eotaxin, a chemokine driving eosinophilic inflammation seen in conditions such as asthma and allergic rhinitis. Dysregulation of CCR3 signaling can worsen 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 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 component of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a key role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 may affect 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 key role in cellular movement and signaling. Mutations in LRRC6 can cause ciliopathies, a group of genetic disorders marked 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 like 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 nuclear structure and organization. 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 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 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 essential process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, allowing ribosomes to access the initiation codon and start protein production. It functions as part of the eukaryotic translation initiation complex, working together 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 key role in B-cell development and differentiation. It belongs to the PAX family of transcription factors, which are defined by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is essential for specifying B-cell lineage commitment during hematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their development from hematopoietic stem cells.




PAX5

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



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 defense 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 an important player in the study of longevity and age-related diseases, influencing pathways that affect the aging process. In aging research, FOXO3 stands out as a central factor, with scientists working to understand its role in the complex mechanisms of life and aging.

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, particularly myeloid leukemia. 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 tumors.

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 estrogen, a steroid hormone, across various tissues in the body. ESR1 is essential for regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 remains in the cytoplasm in an inactive state, bound to heat shock proteins. When estrogen 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 implicated in regulating cell signaling pathways and has been studied for its potential role in tumor suppression. It participates in receptor internalization 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 in the response to infection and injury. It binds to pathogens and damaged cells to support their clearance 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 (Tumor Suppressor Candidate 1): TUSC1 is a gene believed to function as a tumor 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 measure that reflects the activity of a key protein responsible for iron homeostasis in the body. TFRC mediates the uptake of transferrin-bound iron into cells and is essential for erythropoiesis. It is also widely used as a marker of cellular proliferation, with dysregulation linked to conditions such as anemia 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 leukemia, 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 characterized. Like many proteins of this type, it may play a role in cellular signaling 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 suggest the protein plays a role in signaling pathways involved in cell morphology, cytoskeletal organization, and cellular migration. While its precise functions are still under study, PLEKHG1 is believed 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 signaling, 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 signaling pathways.

PTPN7

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyzes 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, emphasizing 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 key part of the mitochondrial respiratory chain. This complex is essential for energy production through oxidative phosphorylation. Mutations or dysregulation of LYRM7 can cause mitochondrial dysfunction, contributing to metabolic and neurodegenerative diseases. Its role in energy metabolism underscores its importance in maintaining cellular function and viability.

LYRM7

POGZ (Pogo Transposable Element Derived with ZNF Domain): POGZ is a protein featuring zinc finger domains that plays a key role in chromatin remodeling and gene regulation. It is essential for shaping chromatin structure and controlling gene expression. Mutations in POGZ are associated with neurodevelopmental disorders, highlighting its importance 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 is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signaling. 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 signaling pathways, including Wnt signaling. 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 thought to be involved in testicular function and development. While its specific functions are not yet fully understood, Tex26 is considered important in reproductive biology and may have relevance 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 an essential role in ensuring proper cell division and has been studied in the context of cancer, where disruptions in cell cycle control are a common characteristic.

MPHOSPH6

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which serve 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 sharing similarities with 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 tumor 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.


TBC1D8B

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