CCDC8


Description

The CCDC8 (coiled-coil domain containing 8) is a protein-coding gene located on chromosome 19.

CCDC8, also known as Coiled-coil domain containing 8, is a protein encoded by the CCDC8 gene in humans. It functions as a cofactor for p53-mediated apoptosis following DNA damage. CCDC8 also plays a role in growth by interacting with the cytoskeletal adaptor protein obscurin-like 1. Mutations in the CCDC8 gene can lead to 3-M syndrome.

CCDC8 is a core component of the 3M complex, which plays a crucial role in regulating microtubule dynamics and maintaining genome integrity. The precise mechanism by which the 3M complex controls microtubules remains unclear, but it is hypothesized that it might regulate the levels of microtubule stabilizers. Additionally, CCDC8 is essential for directing CUL7 to the centrosome.

CCDC8 is also known as 3M3, PPP1R20, p90.

Associated Diseases


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