UniProt Protein Function: | CCDC8: Defects in CCDC8 are the cause of 3M syndrome type 3 (3M3). A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.Protein type: Unknown functionChromosomal Location of Human Ortholog: 19q13.32Cellular Component: centrosome; cytoplasm; plasma membraneBiological Process: regulation of mitosis; microtubule cytoskeleton organization and biogenesisDisease: Three M Syndrome 3 |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q9H0W5 |
NCBI GenInfo Identifier: | 199559779 |
NCBI Gene ID: | 83987 |
NCBI Accession: | NP_114429.2 |
UniProt Secondary Accession: | Q9H0W5,Q8TB26 |
UniProt Related Accession: | Q9H0W5 |
Molecular Weight: | 59,374 Da |
NCBI Full Name: | coiled-coil domain-containing protein 8 |
NCBI Synonym Full Names: | coiled-coil domain containing 8 |
NCBI Official Symbol: | CCDC8Â Â |
NCBI Official Synonym Symbols: | 3M3; p90; PPP1R20Â Â |
NCBI Protein Information: | coiled-coil domain-containing protein 8; protein phosphatase 1, regulatory subunit 20 |
UniProt Protein Name: | Coiled-coil domain-containing protein 8 |
UniProt Synonym Protein Names: | |
Protein Family: | Coiled-coil domain-containing protein |
UniProt Gene Name: | CCDC8Â Â |
UniProt Entry Name: | CCDC8_HUMAN |