CCDC8 gene

coiled-coil domain containing 8

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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).

From NCBI Gene:

  • Three M syndrome 3

From UniProt:

3M syndrome 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. [MIM:614205]

Cytogenetic Location: 19q13.32, which is the long (q) arm of chromosome 19 at position 13.32

Molecular Location: base pairs 46,410,329 to 46,413,662 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.32, which is the long (q) arm of chromosome 19 at position 13.32
  • 3M3
  • p90
  • PPP1R20