CCDC50 gene

coiled-coil domain containing 50

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Involved in EGFR signaling.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 44

From UniProt:

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. [MIM:607453]

Cytogenetic Location: 3q28, which is the long (q) arm of chromosome 3 at position 28

Molecular Location: base pairs 191,329,082 to 191,398,670 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q28, which is the long (q) arm of chromosome 3 at position 28
  • C3orf6
  • DFNA44
  • YMER