Genomes and Genes
Gene Symbol: CCDC8
Description: coiled-coil domain containing 8
Alias: 3M3, PPP1R20, p90, coiled-coil domain-containing protein 8, protein phosphatase 1, regulatory subunit 20
- Hanson D, Murray P, Coulson T, Sud A, Omokanye A, Stratta E, et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol. 2012;49:267-75 pubmed publisher3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but the mechanism is unknown...
- Yan J, Yan F, Li Z, Sinnott B, Cappell K, Yu Y, et al. The 3M complex maintains microtubule and genome integrity. Mol Cell. 2014;54:791-804 pubmed publisherCUL7, OBSL1, and CCDC8 genes are mutated in a mutually exclusive manner in 3M and other growth retardation syndromes. The mechanism underlying the function of the three 3M genes in development is not known...
- Hu X, Li H, Gui B, Xu Y, Wang J, Li N, et al. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. Clin Chim Acta. 2017;474:159-164 pubmed publisher..Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age...
- Yang C, Yu T, Han C, Qin W, Liao X, Yu L, et al. Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China. Cell Physiol Biochem. 2017;42:1342-1357 pubmed publisher..that MKI67 combined with p53 was associated with a 3-year recurrence-free survival and five variants near TTN and CCDC8 were associated with MKI67 expression...