Coiled Coil Domain Containing Protein 50 (CCDC50)

CCDC50 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.The predicted amino acid sequence of Ymer did not indicate the presence of transmembrane domains or a signal peptide, although the coil-coiled domain is encoded by exons 3 and 4, and 2 motifs interacting with ubiquitin (MIUs) are encoded by exons 7 and 8 (MIU1) and exons 8 and 9 (MIU2).