| C19orf25 |
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| B3GALT3 |
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This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse …
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| SIX1 |
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The vertebrate SIX genes are homologs of the Drosophila 'sine oculis' (so) gene, which is expressed primarily in the developing …
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| ZNF273 |
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| SLC35D3 |
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| - |
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| SLC12A2 |
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Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and …
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| CYP17A1 |
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This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
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| PHF21A |
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BHC80 is a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of …
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| - |
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| BAT4 |
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A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. …
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| COASY |
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Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by …
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| GNL3L |
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| PPM1E |
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The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members …
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| CLCNKB |
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Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 …
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| HLX1 |
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Putative transcription factor involved in embryogenesis and hematopoiesis. May play an important role in lymphocytes and certain developing tissues.
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| ZAN |
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This gene encodes a sperm membrane protein that binds the zona pellucida of the egg in a species-specific manner. The …
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| CNIH3 |
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| - |
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| CNNM2 |
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| TNFRSF4 |
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The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate …
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| - |
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| - |
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| ZNF651 |
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| ADPRHL2 |
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| USP18 |
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USP18, a member of the deubiquitinating protease family of enzymes, removes ubiquitin adducts from a broad range of protein substrates.[supplied …
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| ACBD3 |
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The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The …
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| - |
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DISCONTINUED: LocusID 29003 was defined by AF113013.1 and NM_014084.2, which do not appear to represent a protein-coding gene.
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| SFRS12 |
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SFRS12 belongs to the superfamily of serine/arginine-rich (SR) splicing factors. It modulates splice site selection by regulating the activities of …
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| TMEM47 |
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This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the …
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| PITPNB |
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The protein encoded by this gene is found in the cytoplasm, where it catalyzes the transfer of phosphatidylinositol and phosphatidylcholine …
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| COTL1 |
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This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also …
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| ABCB10 |
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The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins …
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| COMMD5 |
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| SLC24A6 |
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| DFNA5 |
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Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in …
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| UTY |
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This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. This protein is …
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| - |
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May act as intramembrane protease.
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| - |
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| ZNF155 |
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May be involved in transcriptional regulation.
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| - |
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| LTBP4 |
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Transforming growth factor-beta, or TGFB (see TGFB1; MIM 190180), remains biologically latent after secretion, blocked from activity by its N-terminal …
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| ORC5L |
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The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA …
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| CAPN10 |
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Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit …
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| RFP2OS |
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| C16orf7 |
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| HPX |
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Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to …
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| - |
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| MELK |
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Phosphorylates ZNF622 and may contribute to its redirection to the nucleus.
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| GPR89 |
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| MAGEA9 |
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This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to …
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| - |
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| PLVAP |
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| PDLIM2 |
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Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. …
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| FLYWCH1 |
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| B3GNT1 |
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This gene encodes an enzyme that is a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane …
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| GSTM2 |
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Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of …
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| ZNF606 |
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May be involved in transcriptional regulation.
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| APEX1 |
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Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that …
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| ZFYVE1 |
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The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. …
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| FBXO9 |
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This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
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| TMC2 |
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This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this …
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| CGNL1 |
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| FUT8 |
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This enzyme belongs to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose …
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| - |
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| TTC18 |
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| C6orf31 |
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| CTSH |
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The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It …
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| CYGB |
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Cytoglobin is a ubiquitously expressed hexacoordinate hemoglobin that may facilitate diffusion of oxygen through tissues, scavenge nitric oxide or other …
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| PURG |
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The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding …
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| - |
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Endocytosis of cell surface proteins requires a dynamic complex of proteins that assemble on the inner surface of the plasma …
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| PRKAR1A |
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cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent …
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| FSHPRH1 |
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The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. This gene is also …
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| - |
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| - |
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| LANCL1 |
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This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in …
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| OR5P3 |
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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
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| HLA-A |
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HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a …
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| - |
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| - |
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Plays a major role in organizing spindle poles.
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| DNASE1L2 |
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| ZFP28 |
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May be involved in transcriptional regulation. May have a role in embryonic development.
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| - |
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| - |
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| - |
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| - |
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| C14orf128 |
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| G6PD |
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This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function …
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| - |
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| C7orf2 |
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| GNAT1 |
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Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. …
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| HRASLS |
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| PCDHB5 |
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This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on …
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| RALB |
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This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins …
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| LPIN2 |
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Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride …
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| CHM |
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The choroideremia gene encodes for a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking.[supplied by OMIM]
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| PAPOLG |
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This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a …
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| COMP |
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The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, …
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| KERA |
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Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican (MIM 600616), and …
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| - |
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| ENY2 |
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| BUB1B |
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This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays …
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| NDUFB10 |
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Transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be …
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| TWISTNB |
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| XRCC5 |
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The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as …
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| CECR2 |
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May be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, …
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| CR1 |
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This gene encodes a membrane glycoprotein found on peripheral blood cells, glomerular podocytes, and follicular dendritic cells. The protein is …
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| - |
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| TRPC7 |
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Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated …
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| CEBPG |
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The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which …
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| - |
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Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'end of 18S rRNA in the …
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| KIF3C |
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Microtubule-based anterograde translocator for membranous organelles (By similarity).
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| - |
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| NDRG1 |
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This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein …
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| ZNF31 |
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May be involved in transcriptional regulation.
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| HCCS |
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Links covalently the heme group to the apoprotein of cytochrome c (By similarity).
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| OBP2A |
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Probably binds and transports small hydrophobic volatile molecules.
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| TMPRSS6 |
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The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell …
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| C1orf35 |
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| GPR175 |
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| EHBP1 |
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| NFIB |
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Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication …
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| KCNJ12 |
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This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to …
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| - |
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| - |
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| PCCA |
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PCCA encodes the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. …
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| GARNL4 |
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| - |
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This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members …
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| APBA1 |
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The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein …
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| PSEN1 |
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Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or …
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| SLC13A1 |
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Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney.
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| EPC1 |
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Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation …
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| HR |
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This gene encodes a protein whose function has been linked to hair growth. A similar protein in rat functions as …
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| DEFT1P |
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| CAMLG |
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The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. …
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| ITGA9 |
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This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta …
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| C20orf43 |
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| DRG1 |
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May play a role in cell proliferation, differentiation and death.
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| COX5B |
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Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that …
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| GPR12 |
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Orphan receptor.
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| MRPS17 |
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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
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| SCOC |
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| JUP |
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This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes …
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| IL5RA |
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The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is …
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| CYP2F1 |
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This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
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| XPNPEP1 |
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X-prolyl aminopeptidase (EC 3.4.11.9) is a proline-specific metalloaminopeptidase that specifically catalyzes the removal of any unsubstituted N-terminal amino acid that …
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| CCKAR |
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This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This …
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| GPBAR1 |
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| NMD3 |
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| - |
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This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function.
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| - |
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Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor …
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| BHMT2 |
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Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from …
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| 2-Mar |
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| - |
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| WISP3 |
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This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue …
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| LHX3 |
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This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The …
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| PLA2G2E |
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PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids.
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| TTRAP |
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This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis …
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| MYH7B |
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| KRT12 |
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KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to …
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| - |
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| - |
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| - |
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This gene encodes a cisplatin resistance-associated overexpressed protein (CROP). The N-terminal half of the CROP contains cysteine/histidine motifs and leucine …
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| EME2 |
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| CYP3A5 |
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This gene,CYP3A5, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
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| - |
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| VNN3 |
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This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, …
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| FHOD1 |
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This gene encodes a protein which is a member of the Formin/Diaphanous family of proteins. The gene is ubiquitously expressed …
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| OR7C1 |
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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
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View
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| ZNF485 |
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| AP2B1 |
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The beta adaptin subunit is part of the clathrin coat assembly complex which links clathrin to receptors in coated pits …
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| - |
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NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et …
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| CXXC1 |
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Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate gene expression …
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View
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| - |
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| SLC22A16 |
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Organic ion transporters, such as SLC22A16, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular …
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| AP3M2 |
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This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium …
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| KNG1 |
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| OR2H1 |
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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
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| MUC7 |
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| GYG |
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Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
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| GCDH |
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The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to …
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| C20orf103 |
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| - |
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| TXNDC11 |
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May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it …
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| BBS2 |
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This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome …
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| CXCR4 |
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This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is …
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| ZAP70 |
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Associates with the T-cell antigen receptor zeta chain (CD3Z). Plays a role in lymphocyte activation.
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| FGF18 |
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The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess …
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| IL1RL2 |
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The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene …
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| ICOSLG |
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| FOXE1 |
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This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This …
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