CCDC40
Description
The CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) is a protein-coding gene located on chromosome 17.
The CCDC40 gene in humans encodes the coiled-coil domain-containing protein 40, which is essential for the proper function of motile cilia. It plays a vital role in left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in the CCDC40 gene lead to ciliary dyskinesia type 15, a disorder characterized by defects in cilia motility. Alternative splicing of the gene results in multiple transcript variants.
CCDC40 plays a crucial role in regulating ciliary beat by assembling the dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes. It likely works in conjunction with CCDC39 to establish the 96 nanometer repeat length and arrangement of components within cilia and flagella. Notably, it is not involved in outer dynein arm complex assembly but is required for the recruitment of CCDC39 to the axoneme.
CCDC40 is also known as CFAP172, CILD15, FAP172.
