CCDC8

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 have been shown to cause 3-M syndrome.{{cite journal |vauthors=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 | title = Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth | journal = Am. J. Hum. Genet. | volume = 89 | issue = 1 | pages = 148–53 |date=July 2011 | pmid = 21737058 | pmc = 3135816 | doi = 10.1016/j.ajhg.2011.05.028 }}

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{{refbegin | 2}}

• {{Cite journal

| last1 = Hanson | first1 = D.

| last2 = Murray | first2 = P. G.

| last3 = O'Sullivan | first3 = J.

| last4 = Urquhart | first4 = J.

| last5 = Daly | first5 = S.

| last6 = Bhaskar | first6 = S. S.

| last7 = Biesecker | first7 = L. G.

| last8 = Skae | first8 = M.

| last9 = Smith | first9 = C.

| last10 = Cole | first10 = T.

| last11 = Kirk | first11 = J.

| last12 = Chandler | first12 = K.

| last13 = Kingston | first13 = H.

| last14 = Donnai | first14 = D.

| last15 = Clayton | first15 = P. E.

| last16 = Black | first16 = G. C. M.

| title = Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

| doi = 10.1016/j.ajhg.2011.05.028

| journal = The American Journal of Human Genetics

| volume = 89

| issue = 1

| pages = 148–153

| year = 2011

| pmc = 3135816

| pmid = 21737058

}}

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_3ms GeneReviews/NIH/NCBI/UW entry on 3-M syndrome]
• {{UCSC gene info|CCDC8}}

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