Description
Product Characteristics:
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.Tissue specificity:Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis.Involvement in disease:Defects in CCDC39 are the cause of primary ciliary dyskinesia type 14 (CILD14). 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.
Synonyms: CCD39_HUMAN, Ccdc39, Coiled-coil domain-containing protein 39.
Target Information: The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]