CCDC50

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.

Full Name

coiled-coil domain containing 50

Function

Involved in EGFR signaling.

Biological Process

Sensory perception of sound Source: MGI

Cellular Location

Cytoplasm. Associated with microtubules of the cytoskeleton and mitotic apparatus.

Involvement in disease

Deafness, autosomal dominant, 44 (DFNA44): A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade.

PTM

Phosphorylated on tyrosine residues.