InterPro domain: IPR033290

CCDC39 is an axonemal protein with coiled-coil domains required for assembly of inner dynein arms and the dynein regulatory complex, a key regulator of motor activity in cilia [ 1 ]. Mutations in CCDC39 are a cause of primary ciliary dyskinesia, a disorder caused by cilia and sperm dysmotility [ 2 ].

1. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat. Genet. 43, 72-8
2. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum. Mutat. 34, 462-72