Biology:CCDC40 (gene)

Generic protein structure example

CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.

Function

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].

Further reading

• "MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis". Journal of Huazhong University of Science and Technology 30 (4): 425–9. August 2010. doi:10.1007/s11596-010-0443-3. PMID 20714864. 
• Primary Ciliary Dyskinesia. 1993. PMID 20301301. 
• "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical Genetics 49 (6): 410–6. June 2012. doi:10.1136/jmedgenet-2012-100867. PMID 22693285. 
• "The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation". Nature Genetics 43 (1): 79–84. January 2011. doi:10.1038/ng.727. PMID 21131974. 

External links

• Human CCDC40 genome location and CCDC40 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.