CCDC40 (gene) explained
CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.[1]
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
- Wang J, Lin J, Chang Y, Li P, Yang Y . 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 . 20714864 . 10.1007/s11596-010-0443-3 . 195683753 .
- Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia . 1993 . 20301301 .
- Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S . Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia . Journal of Medical Genetics . 49 . 6 . 410–6 . June 2012 . 22693285 . 10.1136/jmedgenet-2012-100867 . 54524650 .
- Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD . 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 . 21131974 . 3132183 . 10.1038/ng.727 .
Notes and References
- Web site: Entrez Gene: Coiled-coil domain containing 40 .
