CCDC50
Sign in to saveAlso known as C3orf6, DFNA44, YMER, coiled-coil domain containing 50
Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.
Gene data
CCDC50- Name
- coiled-coil domain containing 50
- Type
- protein-coding
- Aliases
- C3orf6, DFNA44, YMER
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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 32655
- exact match
- identifiers.org/ncbigene/152137
- genomic end
- 191398659
- genomic start
- 191329085
- cytogenetic location
- 3q28
Sources (4)
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- References
- External links
- Further reading
Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.
==References==