CCDC40 Antibody – Rabbit Polyclonal

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]

CCDC40: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39. Defects in CCDC40 are the cause of primary ciliary dyskinesia type 15 (CILD15). A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the CCDC40 family. 5 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: axoneme; cilium; cytoplasm

Biological Process: heart looping; lung development; sperm motility

Disease: Ciliary Dyskinesia, Primary, 15