CCDC8 explained
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.[1]
Function
This gene encodes a coiled coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1.
Clinical relevance
Mutations in this gene have been shown to cause 3-M syndrome.[2]
Further reading
- Hanson . D. . Murray . P. G. . O'Sullivan . J. . Urquhart . J. . Daly . S. . Bhaskar . S. S. . Biesecker . L. G. . Skae . M. . Smith . C. . Cole . T. . Kirk . J. . Chandler . K. . Kingston . H. . Donnai . D. . Clayton . P. E. . Black . G. C. M. . Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth . 10.1016/j.ajhg.2011.05.028 . The American Journal of Human Genetics . 89 . 1 . 148–153 . 2011 . 3135816 . 21737058.
External links
Notes and References
- Web site: Entrez Gene: Coiled-coil domain containing 8. 2011-12-30 .
- Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC . Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth . Am. J. Hum. Genet. . 89 . 1 . 148–53 . July 2011 . 21737058 . 3135816 . 10.1016/j.ajhg.2011.05.028 .