Aliases for CCDC40 Gene
External Ids for CCDC40 Gene
Previous GeneCards Identifiers for CCDC40 Gene
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
GeneCards Summary for CCDC40 Gene
CCDC40 (Coiled-Coil Domain Containing 40) is a Protein Coding gene. Diseases associated with CCDC40 include Ciliary Dyskinesia, Primary, 15 and Primary Ciliary Dyskinesia15: Ccdc40-Related Primary Ciliary Dyskinesia.
UniProtKB/Swiss-Prot for CCDC40 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:21131974). Probably acts together with CCDC39 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. Required for axonemal recruitment of CCDC39 (PubMed:21131974).