CCDC151 Proteins

Protein Information

CCDC151 (Coiled-Coil Domain-Containing 151) is a gene located on chromosome 19p13.2 that encodes a protein essential for the assembly and function of motile cilia. The protein is highly conserved across species with motile cilia and is the vertebrate ortholog of the Chlamydomonas ODA10 gene. CCDC151 is crucial for the assembly and docking of outer dynein arms (ODAs) on the axoneme of cilia, which are necessary for ciliary beating and motility. Mutations in CCDC151 have been linked to primary ciliary dyskinesia (PCD), a genetic disorder characterized by chronic respiratory infections, abnormal organ positioning (situs inversus), and infertility due to defective ciliary movement. Studies in zebrafish and mouse models have demonstrated that mutations in CCDC151 lead to a spectrum of situs defects and complex heart abnormalities. These findings underscore the pivotal role of CCDC151 in ciliary function and its implications in human health and disease.

Synonyms

CCDC151; CILD30; coiled-coil domain containing 151; coiled-coil domain-containing protein 151