Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.[5]
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.[6]
References
^ a b cGRCh38: Ensembl release 89: ENSG00000169515 – Ensembl, May 2017
^ a b cGRCm38: Ensembl release 89: ENSMUSG00000041117 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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 (July 2011). "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. doi:10.1016/j.ajhg.2011.05.028. PMC3135816. PMID 21737058.
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. (2011). "Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth". The American Journal of Human Genetics. 89 (1): 148–153. doi:10.1016/j.ajhg.2011.05.028. PMC3135816. PMID 21737058.
External links
GeneReviews/NIH/NCBI/UW entry on 3-M syndrome
Human CCDC8 genome location and CCDC8 gene details page in the UCSC Genome Browser.