background:
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].
Subunit:
Interacts with OBSL1.
Tissue Specificity:
Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in CCDC8 are the cause of 3M syndrome type 3 (3M3) [MIM:614205]. 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.
Database links:
UniProtKB/Swiss-Prot: Q9H0W5.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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