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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

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


MOV10L1

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



NUP62CL

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




TMPRSS6

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

RFC4

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

RADX

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




RALGDS

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

ANKK1

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

TMEM51

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




TMEM258

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



PSAP

OPTC (Opticin): Opticin is a glycoprotein located primarily in the vitreous humor of the eye. It plays an important role in maintaining the structural integrity of the vitreous body and may be involved in ocular development as well as certain eye diseases.



OPTC

SERINC2 (Serine Incorporator 2): SERINC2 is a protein from the SERINC family that facilitates the incorporation of serine into membrane lipids, supporting the biosynthesis and stability of cellular membranes. It plays key roles in maintaining membrane fluidity, regulating signaling pathways, and contributing to immune function. By influencing membrane composition, SERINC2 affects cell proliferation, differentiation, and programmed cell death, making it essential for cellular health and physiological balance.



SERINC2

RARB (Retinoic Acid Receptor Beta): RARB is a nuclear receptor that binds retinoic acid, a metabolite of vitamin A. It plays a key role in regulating gene expression during development, especially in epithelial tissue growth, cell differentiation, and nervous system formation. Altered RARB activity has been associated with cancers such as skin, lung, and breast, as well as developmental disorders, and is under investigation for potential retinoid-based therapies.



RARB

OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a protein that belongs to the olfactory receptor gene family — a group of G protein-coupled receptors involved in detecting odors. These receptors are found in the olfactory epithelium, where they bind specific odor molecules and trigger signal pathways that result in the perception of smell. While the exact ligands and functions of OR13F1 are not yet fully understood, it plays a role in our sense of smell and may also be involved in pheromone detection.



OR13F1

NOS1 (Nitric Oxide Synthase 1): NOS1 is an enzyme that produces nitric oxide (NO), a key signaling molecule in the body. It is essential for neurotransmission, regulation of vascular tone, and modulation of immune responses. In the nervous system, NOS1 supports neuronal communication and plasticity. Imbalances in NOS1 activity have been linked to neurological disorders, cardiovascular diseases, and inflammatory conditions.



NOS1

MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is a component of the mitochondrial ribosome, essential for the synthesis of proteins within mitochondria. It plays a vital role in producing proteins required for mitochondrial function and energy generation. Impairments in MRPS9 can reduce mitochondrial efficiency and may be associated with mitochondrial disorders, influencing overall cellular energy metabolism.



MRPS9

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex that plays a key role in the body’s immune defense. It helps regulate the assembly and activation of this complex, enabling the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is essential for destroying engulfed pathogens, and mutations in NCF4 can impair immunity, leading to greater susceptibility to infections.

NCF4

C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene linked to retinal dystrophies and Bardet-Biedl syndrome — a condition marked by vision loss, obesity, and other symptoms. It plays a key role in maintaining photoreceptor cells and supporting cilia-related processes. Mutations in this gene can cause retinal degeneration and disrupt normal ciliary function.



C8ORF37

TGM2 (Transglutaminase 2): TGM2 is a multifunctional enzyme that catalyzes the cross-linking of glutamine and lysine residues in proteins, a key post-translational modification. It participates in essential cellular processes such as apoptosis, cell differentiation, and tissue repair by stabilizing and remodeling the extracellular matrix. TGM2 is implicated in various disease pathways, including neurodegenerative disorders, fibrotic diseases, and certain cancers, where altered activity can drive disease progression. It also plays a role in immune responses, notably in celiac disease.


TGM2

ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme in the adenosine deaminase family involved in RNA editing. It catalyzes the conversion of adenosine to inosine in RNA molecules, a post-transcriptional modification that can alter RNA sequences, affecting their structure, function, and regulation of gene expression.




ADARB2

PSCA (Prostate Stem Cell Antigen): PSCA is a cell surface protein found in certain tissues, including the prostate. It has been studied for its potential role in prostate cancer, where it may function as a biomarker and a possible target for therapy.




PSCA

RGMA (Repulsive Guidance Molecule A): RGMA is a protein that regulates axon guidance during neural development. It plays a key role in directing neuronal migration and axon growth through repulsive signaling pathways. RGMA is essential for the formation of neural circuits and is linked to certain neurodevelopmental disorders.




RGMA

FMN2 (Formin 2): FMN2 is a protein involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a key role in cell division, movement, and morphogenesis, supporting the structural integrity and dynamic remodeling of the cytoskeleton. FMN2 is essential during cell division and nervous system development, and mutations in the FMN2 gene have been linked to impaired sperm motility, infertility, and certain developmental disorders.


FMN2

QSOX2, also known as Quiescin Sulfhydryl Oxidase 2, is an enzyme that plays a key role in the oxidative folding of proteins, especially those with multiple disulfide bonds. Located mainly in the endoplasmic reticulum (ER) of cells, QSOX2 is essential for maintaining protein structure and function by catalyzing disulfide bond formation between cysteine residues. This activity supports proper protein folding, stability, and secretion, acting as a thiol oxidase that transfers electrons from reduced cysteines to molecular oxygen.




QSOX2

MICB (MHC Class I Polypeptide-Related Sequence B): MICB is a stress-induced ligand for the NKG2D receptor, which is expressed on natural killer (NK) cells, CD8+ T-cells, and certain γδ T-cells. The interaction between MICB and NKG2D is essential for immune surveillance, helping the body recognize and eliminate malignant or infected cells. Upregulation of MICB on stressed, transformed, or infected cells can activate an immune response, leading to targeted cell destruction. Therefore, MICB plays a key role in defense against cancer and viral infections.



MICB

APP (Amyloid Precursor Protein): APP is a measure that reflects the role of a key transmembrane protein involved in various cellular processes, especially in the central nervous system. APP is essential for neuronal development, synaptic plasticity, and cell signaling. Its processing produces amyloid-beta peptides, which are linked to the development of Alzheimer's disease. Proper regulation of APP processing and amyloid-beta production is critical for maintaining neuronal health and cognitive function, while dysregulation can contribute to Alzheimer's pathology.

Ric3 (Resistance To Inhibitors Of Cholinesterase 3 Homolog): Ric3 is a protein involved in the maturation and trafficking of nicotinic acetylcholine receptors, which are essential for neuronal signaling. Ric3 plays a key role in the development and maintenance of the nervous system, and alterations in its function can have implications for neurological diseases.

Ric3

SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is a protein that plays a key role in cell adhesion and synaptic organization. It is important for the formation of neural circuits, especially in the visual system, and contributes to proper neural connectivity and communication.




SDK1

RSPO3 (R-Spondin 3): RSPO3 is a member of the R-spondin family that modulates the Wnt signaling pathway, which is essential for embryonic development and cell growth. It plays key roles in processes such as vascular development and stem cell proliferation. Dysregulation of RSPO3 has been associated with conditions including cancer.

RSPO3

RAB38 is a member of the Ras-related protein family and acts as a key regulator of intracellular membrane trafficking, particularly within the endosomal-lysosomal system. Primarily located in the cytoplasm, RAB38 coordinates the movement and fusion of membrane-bound vesicles, ensuring proper sorting and delivery of cargo molecules. This protein plays a specialized role in melanosome biogenesis, supporting the maturation and transport of melanosomes — organelles responsible for melanin synthesis and distribution in melanocytes. Through its interactions with effector proteins and membrane fusion machinery, RAB38 facilitates these critical cellular processes.




RAB38

RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signaling pathway, which plays a critical role in regulating cell fate, differentiation, and development. Proper function of RBPJ is essential for tissue development and cell specialization, while dysregulation of RBPJ and Notch signaling is associated with various diseases, including cancers and developmental disorders.

RBPJ

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



SCARB1

LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins. It is involved in neuronal development and synaptic function, playing a role in the formation and maintenance of neural circuits. Dysfunctions in LRFN5 may contribute to neurodevelopmental disorders.

LRFN5

MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a critical role in regenerating methylcobalamin, supporting the continuous function of MTR in homocysteine metabolism. It is essential for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are linked to homocystinuria, which can contribute to developmental and neurological complications. Understanding MTRR function provides insights for potential therapies for genetic disorders.


MTRR

SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is a member of the SCAMP family, involved in membrane trafficking processes. It plays a key role in regulating membrane recycling and exocytosis, especially in neurons. SCAMP5 is important for neurotransmitter release and neuronal communication, and its function may have implications in neurological disorders.




SCAMP5

PREP (Prolyl Endopeptidase): PREP is an enzyme that reflects the activity of a serine protease involved in breaking down proline-containing peptides. It plays an important role in the metabolism of neuropeptides and peptide hormones, contributing to cognitive processes and the inflammatory response. Changes in PREP activity have been associated with neurological disorders, including Alzheimer's disease, highlighting its role in neurodegeneration and cognitive function.

PREP

RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a gene that encodes a protein component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. This process supports the production of mitochondrial respiratory chain components, which are critical for cellular energy generation. MRPL39 plays a key role in mitochondrial function, and its dysfunction may contribute to disorders affecting energy metabolism, including neurodegenerative, muscular, and metabolic diseases.

MRPL39

LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein with a domain similar to lecithin retinol acyltransferase (LRAT), an enzyme involved in vitamin A metabolism. While its exact functions remain under investigation, LRATD1 is thought to play a role in processes related to vitamin A utilization and regulation.

LRATD1

TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): TNFRSF13B, also known as TACI, is a receptor for the cytokines BAFF and APRIL. Both play key roles in B cell development and function. Mutations in TNFRSF13B have been linked to common variable immunodeficiency (CVID) and selective IgA deficiency, highlighting its importance in humoral immunity. Research on TNFRSF13B focuses on understanding its role in immune dysregulation and autoimmune diseases.




TNFRSF13B

TNFSF12 (Tumor Necrosis Factor Ligand Superfamily Member 12, TWEAK):TNFSF12 is a cytokine that belongs to the TNF superfamily and is involved in regulating immune responses, inflammation, tissue homeostasis, and cell death. It can act as both a pro-inflammatory and anti-inflammatory signal, influencing the production of cytokines and chemokines, recruiting immune cells, and modulating the activity of endothelial and other target cells.

TNFSF12

TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is a gene that encodes a protein involved in the metabolism and transport of vitamin E within cells. It contributes to antioxidant defense and cell signaling, and plays a role in maintaining the health of the nervous system and other vitamin E-sensitive pathways.

TPGS2

NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor that binds neurotensin, a neurotransmitter involved in central nervous system functions such as analgesia, thermoregulation, and modulation of dopamine signaling. Activation of NTSR2 influences neural activity and has been linked to the pathophysiology of psychiatric disorders, making it a potential target for therapies in schizophrenia, mood disorders, and pain management.

NTSR2

OOSP1 (Oocyte Secreted Protein 1): OOSP1 is a gene that encodes a protein predominantly expressed in oocytes and involved in early embryonic development. It may play a role in oocyte maturation and in regulating processes during fertilization and the initial stages of embryogenesis. Its function is important for reproductive health and successful embryonic development.

OOSP1

PTER (Phosphotriesterase-related protein): PTER is a protein that plays a key role in cellular detoxification and metabolism regulation. As a member of the phosphotriesterase-related protein family, PTER is involved in breaking down chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic activity helps protect cells from chemical damage, and it is also implicated in cellular signaling and metabolic processes. Dysregulation of PTER expression or activity can increase susceptibility to chemical toxicity and metabolic disturbances.




PTER

SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is a gene that encodes a protein involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in regulating vesicle docking and fusion, which is essential for proper cellular function and intercellular communication.

SCFD1

POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene associated with postoperative cognitive dysfunction, a condition marked by cognitive decline following surgery. Research is ongoing to understand the specific mechanisms and factors that contribute to this condition.




POCD5

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): TNFSF10, also known as TRAIL, is a gene that encodes a protein involved in inducing apoptosis, particularly in tumor cells. It plays a role in immune surveillance and has potential applications in cancer therapy by selectively triggering cell death in cancer cells while sparing normal cells. TNFSF10 is actively studied for its therapeutic potential in oncology.

TNFSF10

SOAT2 (Sterol O-Acyltransferase 2): SOAT2 is an enzyme that reflects a key step in lipid metabolism, particularly in the esterification of cholesterol. It plays a critical role in regulating cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are either stored in lipid droplets or transported via lipoproteins. SOAT2 is mainly expressed in tissues involved in lipid metabolism, including the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cholesterol levels, helping prevent cholesterol toxicity and maintain lipid balance.



SOAT2

TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a critical role in embryonic development, regulating organogenesis including limb, heart, and mammary gland formation. Mutations or dysregulation of TBX3 can cause developmental disorders such as ulnar-mammary syndrome. It is also implicated in cancer, where it may act as a transcriptional repressor to inhibit cell senescence and promote cell proliferation.

TBX3

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase (AKR) family, a group of enzymes involved in the detoxification of aldehydes and ketones. While the specific function of AKR1E2 is not fully understood, members of this family play important roles in metabolism and the cellular response to oxidative stress. Studying AKR1E2 may provide insights into metabolic disorders and how cells respond to environmental stressors.




AKR1E2

rs2129588: Similarly, rs2129588 is a single nucleotide polymorphism (SNP), a common type of genetic variation among individuals. Each SNP represents a change in a single DNA building block, or nucleotide, such as replacing cytosine (C) with thymine (T). Like other SNPs, rs2129588 can act as a biological marker, helping researchers identify genes associated with disease and supporting studies in genomics, pharmacogenomics, and population genetics.

rs2129588

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a key process in gene expression. It plays an important role in regulating alternative splicing, which affects the variety of proteins that can be produced from a single gene. Alterations in RBM17 may have implications in diseases such as cancer, where disrupted splicing can influence cell growth and survival.




RBM17

PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a gene that encodes a protein belonging to the protein tyrosine phosphatase family, which is important for cell signaling. It plays a role in regulating cellular processes such as cell growth and differentiation. Mutations in PTPRT have been linked to several cancers, particularly colorectal cancer, due to its involvement in signaling pathways that control cell proliferation.

PTPRT

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that reflects its role in neural development. It encodes a protein belonging to the leucine-rich repeat family, which is important for protein-protein interactions and the formation and maintenance of neural connections. LRRN1 is significant for understanding neural development and may be implicated in neurodevelopmental disorders.

LRRN1

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme involved in the breakdown of N-linked glycoproteins. It catalyzes the hydrolysis of beta-linked mannose residues, playing a key role in glycoprotein degradation. Deficiencies in MANBA activity can lead to lysosomal storage disorders, resulting in the accumulation of undegraded glycoproteins and impairing cellular function.

MANBA

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme essential for regulating cellular processes through dephosphorylation. It plays critical roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been linked to various diseases, including heart conditions and certain cancers.




PPP1CB

PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 plays a key role in regulating immune cell activation, cytokine production, and other cellular functions, influencing the body’s inflammatory processes. It has been studied in the context of autoimmune and inflammatory diseases.

PTGER4

MTX1 (Metaxin 1): MTX1 is a gene that encodes a protein involved in mitochondrial transport and organization. This protein helps maintain proper mitochondrial positioning and function, which is essential for energy production and overall cellular processes.

MTX1

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a gene that encodes a serine/threonine-specific protein kinase, which acts as a key effector in cyclic guanosine monophosphate (cGMP) signaling. It plays an important role in regulating vascular smooth muscle tone, platelet function, and cardiac contractility, thereby contributing to cardiovascular homeostasis. By phosphorylating target proteins, PRKG1 influences processes such as smooth muscle relaxation, protection against myocardial damage, and inhibition of platelet aggregation, and its activity is linked to cardiovascular health and disease.

PRKG1

SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a protein that is a key part of the COPII complex, which facilitates the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. It is essential for proper protein secretion and the maintenance of organelle integrity. Mutations in SEC31B can impair protein transport and contribute to ER stress-related disorders.

SEC31B

NELL1 (NEL Like 1): is a protein involved in bone and cartilage growth and regeneration. It plays a key role in skeletal development and has been linked to osteochondral diseases and bone healing. Research on NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries.

NELL1

RHOBTB2 (Rho-related BTB domain-containing protein 2): RHOBTB2 is a gene that encodes a protein belonging to the Rho family of small GTPases, which are involved in regulating cytoskeletal dynamics, cell migration, and cell cycle progression. The additional BTB domain suggests roles in protein-protein interactions and regulatory functions beyond classical Rho signaling. RHOBTB2 may influence cell proliferation, apoptosis, intracellular trafficking, mitochondrial function, and responses to oxidative stress.

RHOBTB2

LRAT (Lecithin Retinol Acyltransferase): LRAT is an enzyme that plays a key role in vitamin A metabolism by catalyzing the conversion of all-trans-retinol into all-trans-retinyl esters, the storage form of vitamin A. This process is essential for vision, immune function, and cellular differentiation. Deficiencies or mutations in LRAT can lead to retinal disorders and weakened immune responses, highlighting its importance in maintaining vitamin A balance and overall health.

LRAT

CDKL2 (Cyclin-Dependent Kinase-Like 2): CDKL2 is a gene that encodes a protein involved in neuronal development and function. It belongs to the cyclin-dependent kinase family and is thought to participate in signal transduction and cell cycle regulation. Its activity in neurons suggests a potential role in neurodevelopmental processes and neurological disorders.

CDKL2

NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a key role in regulating cellular metabolism and energy balance. Its activity has been associated with obesity, metabolic disorders, and cancer, making NNMT an important target for therapeutic interventions.


NNMT

LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose in milk. Variants in this gene can affect the body’s ability to break down lactose, potentially leading to lactose intolerance and related gastrointestinal symptoms.

LGALS14 (Galectin 14): LGALS14 is a member of the galectin family, a group of proteins that bind beta-galactoside sugars and help regulate cell-cell and cell-matrix interactions. Galectin 14 is primarily expressed in the placenta and contributes to immune response regulation and fetal-maternal tolerance. Its proper expression and function are essential for pregnancy success, and abnormalities in LGALS14 have been linked to pregnancy complications, including pre-eclampsia and intrauterine growth restriction, underscoring its importance in reproductive health.

LGALS14

TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signaling and plays a key role in cell adhesion, migration, and signaling. It contributes to the formation and stabilization of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.

TLN2

TIAM2, also known as T-lymphoma invasion and metastasis-inducing protein 2, is a key member of the TIAM family of guanine nucleotide exchange factors (GEFs). Primarily located in the cytoplasm, TIAM2 is essential for regulating cellular processes, especially those involving cytoskeletal dynamics, cell migration, and invasion. A defining feature of TIAM2 is its role as a molecular switch for activating Rho GTPases, particularly Rac1. Through its GEF activity, TIAM2 facilitates the exchange of GDP for GTP on Rac1, triggering downstream signaling pathways that control actin cytoskeleton rearrangements.


TIAM2

PRKCE (Protein Kinase C Epsilon):PRKCEis a gene that encodes an enzyme belonging to the protein kinase C (PKC) family. This isoform plays key roles in cellular processes such as cell proliferation, differentiation, apoptosis, and signal transduction. Predominantly located in the cytoplasm, PRKCE regulates these processes by phosphorylating target proteins and mediating the transmission of extracellular signals to intracellular pathways.

PRKCE

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

SEMA6D

LYZ (Lysozyme): Lysozyme (LYZ) is an enzyme that plays a key role in the innate immune system by breaking down the peptidoglycan layer of bacterial cell walls, leading to bacterial lysis. It is abundant in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. Beyond its antibacterial activity, LYZ is also involved in modulating inflammation and has potential therapeutic applications in treating infections and inflammatory conditions.

NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a key role in regulating immune responses. It is activated in T cells by signals that increase intracellular calcium, allowing it to move to the nucleus and influence genes involved in T cell activation and differentiation. NFATC2 is important for proper immune system development, and its dysregulation has been linked to autoimmune diseases and immunodeficiency.

NFATC2

SBF2 (SET Binding Factor 2): SBF2 is a protein involved in nerve development and function. It plays a key role in maintaining the structure and health of peripheral nerves. Mutations in SBF2 have been linked to Charcot-Marie-Tooth disease, a hereditary neurological disorder that can cause nerve degeneration, muscle weakness, and sensory loss.




SBF2

PRIMA1 (Proline Rich Membrane Anchor 1):PRIMA1 is a gene that encodes a protein involved in anchoring acetylcholinesterase to neuronal membranes. This protein plays a key role in the breakdown of the neurotransmitter acetylcholine and is important for regulating cholinergic neurotransmission. It is also of interest in research on neurodegenerative diseases such as Alzheimer's.

PRIMA1

LPIN2 (Lipin 2): LPIN2 is a protein that plays a key role in lipid metabolism and energy production, particularly in the conversion of phosphatidic acid to diacylglycerol, an essential step in triglyceride and phospholipid synthesis. It also contributes to the regulation of gene expression linked to lipid metabolism and inflammation. Mutations in LPIN2 are associated with Majeed syndrome, which is characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, underscoring its importance in both metabolic and immune processes.

LPIN2

ORMDO3 (Oligoribonuclease, mitochondrial): ORMDO3 is a gene that encodes an enzyme essential for maintaining cellular homeostasis within the mitochondria. ORMDO3 specifically degrades short mitochondrial RNA fragments, helping regulate mitochondrial gene expression and ensuring proper mitochondrial function. Dysregulation of ORMDO3 can lead to RNA accumulation, impaired mitochondrial activity, and effects on overall cellular health, with potential links to mitochondrial-related disorders.


ORMDO3

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2  is a gene that encodes an enzyme essential for the production of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulfate donor in various sulfation reactions. It plays an important role in the metabolism of hormones, drugs, and other molecules. Mutations in PAPSS2 can affect skeletal development and lead to disorders such as spondyloepimetaphyseal dysplasia.

PAPSS2

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a key role in regulating energy balance, including appetite and metabolism. Proper LEPR function is essential for the body to respond to leptin signals, while mutations in LEPR can cause leptin resistance, a condition commonly associated with obesity.

LEPR

IL6 (Interleukin 6): IL6 is a cytokine that reflects the activity of the immune system and inflammation. It plays a key role in coordinating the body’s defense mechanisms during infection and injury. IL6 helps regulate inflammatory responses and directs the deployment of immune cells to target threats. Researchers study IL6 to understand its complex interactions and its impact on both normal immune function and inflammatory diseases.

THADA (Thyroid Adenoma Associated): THADA is a gene associated with thyroid adenomas, a type of thyroid tumor. It may play a role in thyroid tumorigenesis and has been implicated in thyroid cancer development, making it a focus of ongoing research in thyroid diseases.

THADA

TNF (Tumor Necrosis Factor): TNF is a cytokine that reflects the activity of the immune system in response to infection and tissue damage. TNF plays a key role in regulating inflammation and immune responses, and its dysregulation is associated with autoimmune diseases and chronic inflammatory conditions.

LY6K (Lymphocyte Antigen 6 Complex, Locus K): LY6K is a gene that encodes a protein belonging to the LY6/uPAR (lymphocyte antigen 6/urokinase-type plasminogen activator receptor) family. While its precise function is still under investigation, LY6K may play a role in immune responses and cell signaling.

LY6K

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is a protein that reflects the activity of the START domain family, involved in the transport and distribution of lipids within cells. It plays a key role in regulating lipid metabolism and maintaining lipid homeostasis, particularly in the liver and gastrointestinal tract. While its specific functions are still being studied, STARD5’s role in lipid transport suggests potential implications for metabolic disorders and diseases related to lipid dysregulation.



STARD5

ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a gene that encodes a subtype of alpha-1-adrenergic receptors, which are involved in the body’s responses to adrenaline and noradrenaline. These receptors play a key role in smooth muscle contraction and cardiovascular function, including blood pressure regulation and vascular tone. Changes in ADRA1A activity may influence cardiovascular health and autonomic nervous system function.

ADRA1A

TNR (Tenascin R): TNR is a gene that encodes an extracellular matrix protein predominantly found in the central nervous system. It is involved in neural development, including synaptic plasticity and neuronal differentiation. TNR plays a role in forming neural networks and may influence neurodevelopmental and neurodegenerative processes.

ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the first step of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can influence the rate of alcohol metabolism, affecting alcohol tolerance and the risk of alcohol-related diseases.

ADH1B

OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 is a gene that encodes a transcriptional repressor involved in regulating gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and the formation of tissue barriers.

OVOL1

PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is a gene that encodes an RNA-binding protein involved in RNA splicing and regulation of gene expression. It plays a key role in neuronal development and has been implicated in neurodevelopmental disorders.

PTBP2

LBP (Lipopolysaccharide-Binding Protein): LBP is a protein that plays a key role in the immune response to bacterial infections. It binds to bacterial lipopolysaccharides (LPS) and helps trigger the innate immune system. LBP is an important component of the body’s defense against bacterial pathogens.

SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma): SCNN1G is a gene that encodes the gamma subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in epithelial tissues such as the lung, kidney, and colon. This subunit is important for controlling the channel’s activity and response to regulatory signals, including hormones like aldosterone. Mutations or dysregulation of SCNN1G can affect fluid and electrolyte balance and contribute to related disorders.

SCNN1G

TSHR (Thyroid-Stimulating Hormone Receptor): TSHR is a measure that reflects the function of the thyroid-stimulating hormone receptor encoded by the TSHR gene. This receptor, located on the surface of thyroid cells, plays a central role in regulating thyroid hormone production and release in response to pituitary signals. Dysregulation of TSHR can contribute to thyroid disorders.



TSHR

LURAP1 (Leucine Rich Adaptor Protein 1): LURAP1 is a gene that encodes a leucine-rich protein believed to be involved in signal transduction pathways. While its exact functions are not fully understood, LURAP1 may play a role in regulating cellular processes such as cell migration and cytoskeletal organization.

LURAP1

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 is a protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). PP1 plays a key role in dephosphorylating target proteins and is essential for cell signaling, metabolism, and cell cycle regulation. PPP1R17 helps modulate the activity and specificity of PP1, influencing a range of cellular processes.

PPP1R17

SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene that encodes a protein involved in lipid metabolism and mitochondrial function. It contributes to the synthesis of cardiolipin, a specialized phospholipid critical for mitochondrial membrane integrity and activity. Mutations in SERAC1 can impair cardiolipin production, potentially leading to mitochondrial dysfunction and related disorders.

SERAC1

PVR (Poliovirus Receptor): PVR is a transmembrane glycoprotein that functions as a receptor for poliovirus and related enteroviruses, facilitating viral entry and infection. Beyond its role in viral recognition, PVR is essential for cell-cell adhesion, immune regulation, and tissue homeostasis. It contributes to the integrity of epithelial and endothelial barriers through its involvement in adherens and tight junctions. Interactions of PVR with ligands such as TIGIT and DNAM-1 help regulate immune cell activation, influencing both innate and adaptive immune responses. Dysregulation of PVR expression or function can have significant impacts on immune function and tissue integrity.

SARDH (Sarcosine Dehydrogenase): SARDH is an enzyme involved in the metabolism of sarcosine, an intermediate in the conversion of choline to glycine. It plays a key role in one-carbon metabolism, which is important for processes such as DNA methylation. Dysfunctions in SARDH can impact metabolic pathways and have been linked to certain metabolic disorders.




SARDH

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B is a protein that regulates the activity of protein phosphatase 1 (PP1), an enzyme involved in glycogen metabolism. It plays a key role in controlling glycogen storage in the liver and contributes to maintaining glucose homeostasis, with implications for metabolic health and disorders.




PPP1R3B

TNKS (Tankyrase): TNKS is a protein-coding gene that reflects the activity of a poly(ADP-ribose) polymerase involved in several critical cellular processes, including regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a key role in cell proliferation and survival and has been studied for its potential involvement in cancer therapy due to its influence on tumor growth.

TNKS

MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8  is a gene that encodes a protein involved in matrix remodeling, an important process for tissue development and repair. While its specific functions are still being studied, MXRA8’s role in extracellular matrix interactions suggests it may contribute to tissue homeostasis and regeneration, with potential implications for tissue engineering and regenerative medicine.

TOX3

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