Coiled-coil domain-containing protein 39 (CCDC39)

Coiled-coil domain-containing protein 39 (CCDC39) is a structural protein localized to the axonemes of motile cilia and flagella. It forms a heterodimer complex with CCDC40, functioning as a molecular ruler responsible for arranging inner dynein arm complexes and the dynein regulatory complex at a precise 96-nm spacing in cilia. This organization is crucial for normal ciliary motility, which underlies physiological functions such as mucociliary clearance in airways, left-right axis determination in embryogenesis, and sperm tail motility. Mutations in CCDC39 disrupt this architecture, resulting in primary ciliary dyskinesia with characteristic respiratory disease, laterality defects, and male infertility. CCDC39 mutations are also notable for causing severe phenotypes due to both motility-dependent and motility-independent cellular defects, including structural loss of multiple ciliary components. There are currently no drugs targeting CCDC39, but it is considered a key gene for molecular diagnosis and may be a candidate for future gene therapies.

Other names

CCDC39Coiled-coil domain-containing 39FAP59CILD14CFAP59DKFZp434A128

None applicable, as no drugs are known to target CCDC39 directly.