CCDC114

This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20.

Full Name

Coiled-Coil Domain Containing 114

Function

Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule.

Biological Process

Cilium movement Source: SYSCILIA_CCNET
Outer dynein arm assembly Source: UniProtKB

Cellular Location

Cilium axoneme; Cilium

Involvement in disease

Ciliary dyskinesia, primary, 20 (CILD20): 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. Patients may 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile.