Official Full Name
coiled-coil domain containing 50
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.
CCDC50; coiled-coil domain containing 50; C3orf6, deafness, autosomal dominant 44 , DFNA44; coiled-coil domain-containing protein 50; Ymer; protein Ymer; C3orf6; DFNA44; YMER, C3orf6, DFNA44