Aliases for CCDC39 Gene
External Ids for CCDC39 Gene
Previous GeneCards Identifiers for CCDC39 Gene
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]
GeneCards Summary for CCDC39 Gene
CCDC39 (Coiled-Coil Domain Containing 39) is a Protein Coding gene. Diseases associated with CCDC39 include Ciliary Dyskinesia, Primary, 14 and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus. GO annotations related to this gene include nucleotide binding.
UniProtKB/Swiss-Prot for CCDC39 Gene
Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly (PubMed:21131972).