Gene: CCDC39
Alternate names for this Gene: CFAP59|CILD14|FAP59
Gene Summary: 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).
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.33
Description of this Gene: coiled-coil domain containing 39
Type of Gene: protein-coding
Gene: TTC14
Alternate names for this Gene: DRDL5813|PRO19630
Gene Summary:
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.33
Description of this Gene: tetratricopeptide repeat domain 14
Type of Gene: protein-coding
rs1560079213 in
CCDC39;TTC14 gene and
Ciliary Motility Disorders
PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
PMID 21131972 2011 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.