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. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011].
Hanson, Stevens, Murray, Black, Clayton: "Identifying biological pathways that underlie primordial short stature using network analysis." in: Journal of molecular endocrinology, Vol. 52, Issue 3, pp. 333-44, (2014) (PubMed).
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: "Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells." in: Nature methods, Vol. 10, Issue 4, pp. 315-23, (2013) (PubMed).
Hanson, Murray, OSullivan, Urquhart, Daly, Bhaskar, Biesecker, Skae, Smith, Cole, Kirk, Chandler, Kingston, Donnai, Clayton, Black: "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth." in: American journal of human genetics, Vol. 89, Issue 1, pp. 148-53, (2011) (PubMed).
Dai, Tang, Jung, Qin, Aaronson, Gu: "Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 108, Issue 47, pp. 18937-42, (2011) (PubMed).