Gene Symbol | CCDC8 |
Entrez Gene ID | 83987 |
Full Name | coiled-coil domain containing 8 |
Synonyms | 3M3,PPP1R20,p90 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | 3-M syndrome 3, 614205 (3) |