| FAM49A |
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| CKMT1B |
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Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. …
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| C19orf34 |
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| PTN |
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Heparin binding mitogenic protein. Has neurite extension activity.
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| CLDN19 |
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Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity (By similarity).
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| SNCB |
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The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and …
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| - |
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| - |
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| IGSF4 |
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| ZNRF1 |
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In a study identifying genes in rat that are upregulated in response to nerve damage, a gene which is highly …
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| - |
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| PHF17 |
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| HIST1H4I |
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Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
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| ZNF505 |
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| C1QA |
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This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order …
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| PSMC6 |
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The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
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| - |
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| GABRB1 |
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The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the …
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| EIF4EBP3 |
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This gene encodes a member of the EIF4EBP family which derives it name from proteins that bind to eukaryotic initiation …
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| - |
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| - |
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| PRG3 |
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| ZNF544 |
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| RNF185 |
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| DNAL4 |
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Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity).
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| - |
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| SOAT1 |
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Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to …
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| NUFIP1 |
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| BAALC |
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| PGGT1B |
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| PLCD1 |
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The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C …
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| POLM |
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| DNCL2A |
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Roadblock/LC7 is one member of an ancient dynein light chain protein family conserved in nematode, fruit fly, mouse, and rat. …
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| WDR58 |
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| FCER1G |
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The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 …
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| ZFP92 |
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| KCNF1 |
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Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their …
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| PIGH |
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This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a …
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| SLC23A3 |
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| GSG2 |
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Plays a role in cell cycle control (By similarity).
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| DDX43 |
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The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression.
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| TMPRSS11D |
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Human airway trypsin-like protease (HAT) is a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It …
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| - |
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| - |
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| POU5F1 |
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Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Prime candidate for an early developmental control gene.
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| NDUFB11 |
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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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| ABCC13 |
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The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
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| - |
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| - |
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| - |
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| - |
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| - |
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| - |
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| RNF126P1 |
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| IFI30 |
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The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. …
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| PTPRN2 |
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The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
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| H2AFY2 |
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Macro-H2A occupies the place of conventional H2A in a subset of nucleosomes and while it has retained general H2A function, …
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| FAM31B |
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| - |
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| PRF1 |
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The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein …
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| RPS6KA6 |
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Phosphorylates a wide range of substrates including ribosomal protein S6. Implicated in the activation of the mitogen- activated kinase cascade.
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| PPAT |
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The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. This protein is a regulatory allosteric …
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| GBA |
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This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations …
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| - |
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| HIST1H4L |
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Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
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| ECEL1 |
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This gene encodes a member of the neutral endopeptidase (NEP)-related family. It is expressed specifically in the nervous system. The …
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| STEAP1 |
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This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The …
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| ACY3 |
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| CREG2 |
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| MEG3 |
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| - |
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DISCONTINUED: LocusID 29020 was defined by AF118077.1 and NM_014101.1 which do not appear to represent a protein-coding gene.
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| KSR |
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Location-regulated scaffolding protein connecting MEK to RAF. Promotes MEK and RAF phosphorylation and activity through assembly of an activated signaling …
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| CHRNB3 |
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After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening …
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| VAMP5 |
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Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or …
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| WDR27 |
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| NDUFB2 |
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The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is …
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| SERPINA4 |
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Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable …
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| COL6A1 |
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The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are …
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| SCHIP1 |
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| C1orf9 |
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| - |
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| - |
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| - |
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| - |
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| SSX4 |
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The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins …
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| - |
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| OR52K3P |
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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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| PCSK5 |
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The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein …
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| - |
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| - |
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| - |
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| RPS27L |
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This gene encodes a protein sharing sequence similarity with ribosomal protein S27. It is not currently known whether the encoded …
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| - |
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| ZFY |
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This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate …
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| ZNF582 |
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| YTHDF2 |
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| TIMM44 |
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Involved in protein import into the mitochondrion. Probably involved in translocation across the inner membrane. As a binding protein required …
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| C6orf118 |
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| C21orf100 |
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| - |
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| RDH5 |
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Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual …
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| OR10D1P |
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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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| PRSS36 |
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Serine protease. Hydrolyzes the peptides N-t-Boc-Gln- Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC and, to a lesser extent, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Val-Leu-Lys-AMC. Has a preference …
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| ASB3 |
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The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. …
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| C1QTNF6 |
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| VPS4A |
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The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), …
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| GAK |
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In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and …
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| IL21 |
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| DMN |
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The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer …
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| - |
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May be required for the assembly pathway of mitochondrial outer membrane proteins (By similarity).
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| - |
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Potential transcription factor.
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| IRAK4 |
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Interleukin-1 receptor (see IL1R; MIM 147810)-associated kinases (e.g., IRAK1; MIM 300283) are important mediators in the signal transduction of Toll-like …
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| C1RL |
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| - |
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| TOP1P2 |
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| GOLT1B |
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| CCL19 |
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This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family …
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| GGTL4 |
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| ATRX |
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The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin …
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| - |
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| - |
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| PTP4A3 |
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The protein encoded by this gene belongs to a small class of prenylated protein tyrosine phosphatases (PTPs). PTPs are cell …
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| F2RL3 |
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Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to …
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| - |
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| TACSTD1 |
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This 9-exon gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type …
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| HSF2 |
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HSF2, as well as the related gene HSF1, encodes a protein that binds specifically to the heat-shock element and has …
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| DSPG3 |
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Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven …
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| GPATC2 |
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| DEGS1 |
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This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into …
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| MCC |
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MCC is a candidate for the putative colorectal tumor suppressor gene. The MCC gene product may be involved in early …
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| - |
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Aminopeptidases play a role in the metabolism of several peptides that may be involved in blood pressure and the pathogenesis …
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| PPP1R11 |
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This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms …
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| LRRK1 |
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| PURA |
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This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element …
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| IPO4 |
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| IVD |
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Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of …
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| MYH4 |
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Muscle contraction.
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| CCNC |
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The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with …
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| IMMP2L |
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| GPR132 |
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This gene encodes a subfamily member of the G-protein couple receptor (GPCR) superfamily. The encoded protein is a high-affinity receptor …
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| KLF6 |
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This gene encodes a nuclear protein that has three zinc fingers at the end of its C-terminal domain, a serine/threonine-rich …
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| - |
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-
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| - |
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Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the …
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| FGF19 |
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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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| LRRC47 |
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| C12orf2 |
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| - |
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| RNF128 |
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The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein …
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| ZNF393 |
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| - |
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| PPARBP |
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The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in …
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| RUNDC2A |
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| PDGFC |
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The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this …
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| LCK |
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May participate in antigen-induced T-cell activation.
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| TTTY5 |
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There is a single copy of this gene on chromosome Y at the center of the P3 palindrome.
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| ZDHHC15 |
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| DIAPH2 |
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This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have …
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| CCDC2 |
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| INHA |
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The inhibin alpha subunit joins either the beta A or beta B subunit to form a pituitary FSH secretion inhibitor. …
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| - |
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| COMMD4 |
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| MECP2 |
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DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, …
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| - |
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-
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| HERC5 |
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HERC5 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 …
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| EFHD2 |
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| - |
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| D4ST1 |
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Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Transfers sulfate to the …
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| LHX4 |
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This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. …
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| - |
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-
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| - |
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| APOA5 |
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The protein encoded by this gene is an apolipoprotein and an important determinant of plasma triglyceride levels, a major risk …
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| FAHD2A |
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| LRRC17 |
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| XRCC4 |
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The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair …
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| - |
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| BRAF |
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Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the …
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| CHST1 |
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-
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| CGRRF1 |
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Able to inhibit growth in several cell lines (By similarity).
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| NDUFS1 |
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The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed …
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| SPAG16 |
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Necessary for sperm flagellar function.
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| YPEL4 |
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-
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| - |
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| PPARGC1B |
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| ZNF252 |
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-
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| DRAP1 |
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Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of …
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| ZNF185 |
- |
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ZNF185 encodes a LIM-domain zinc finger protein. These proteins are thought to be involved in protein-protein interactions.[supplied by OMIM]
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| CMKLR1 |
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Orphan receptor. Could be a chemotactic peptide receptor. May have a function in bone metabolism. Acts as a coreceptor for …
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| ELP4 |
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| - |
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| - |
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-
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| TRIM28 |
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The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many …
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| ZNF20 |
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May be involved in transcriptional regulation.
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View
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| POPDC3 |
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This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed …
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| LASS6 |
- |
|
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May be involved in sphingolipid synthesis or its regulation (By similarity).
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View
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| DTNBP1 |
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This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and …
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| TCAP |
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Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends …
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| DEFB119 |
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Has antibacterial activity (Potential).
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| BRD4 |
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The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and …
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