Species Human Entrez 83987 | Human Mouse Ensembl ENSG00000169515 | |
Aliases CCDC8, 3M3, PPP1R20, p90, coiled-coil domain containing 8 External IDs MGI: 3612184 HomoloGene: 49977 GeneCards: CCDC8 | ||
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
Contents
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.
References
CCDC8 Wikipedia(Text) CC BY-SA