CCDC40 (gene)

Coiled-coil domain containing 40 is a is_associated_with::protein that in humans is encoded by the CCDC40 is_associated_with::gene.

Function
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].