CCDC8
Gene Information
- Official Symbol: CCDC8
- Official Name: coiled-coil domain containing 8
- Aliases and Previous Symbols: N/A
- Entrez ID: 83987
- UniProt: Q9H0W5
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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 Summary: Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695). {ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 9489
- Expression level (log2 read counts): 1.69