This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CCDC50-20-RE | 20 (40 μL) | 200 μL |  |
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| CCDC50-20-OR | 20 (40 μL) | 200 μL |  |
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| CCDC50-20-GO | 20 (40 μL) | 200 μL |  |
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| CCDC50-20-GR | 20 (40 μL) | 200 μL |  |
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| CCDC50-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Gene Symbol : CCDC50
Gene Name : Coiled-coil domain containing 50
Chromosome : CHR 3: 191,329,081-191,398,669
Locus : 3q28
Alt. Genes : KIF20A
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