• Source: CCDC40 (gene)

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 primary ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].




References






Further reading






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.

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• CCDC40 (gene)
• Chromosome 17
• List of human protein-coding genes 1