Aliases for CCDC50 Gene
External Ids for CCDC50 Gene
Previous HGNC Symbols for CCDC50 Gene
Previous GeneCards Identifiers for CCDC50 Gene
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]
GeneCards Summary for CCDC50 Gene
CCDC50 (Coiled-Coil Domain Containing 50) is a Protein Coding gene. Diseases associated with CCDC50 include Deafness, Autosomal Dominant 44 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding.
UniProtKB/Swiss-Prot for CCDC50 Gene
Involved in EGFR signaling.