FEATURES

FAMILY

DESCRIPTION

Also known as CE120_HUMAN, CEP120, CCDC100. Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). Interacts with TACC2, TACC3, CCDC52, TALPID3.

EXTERNAL LINKS

CEP120

Mutations

Mutation(s) distribution

Mutations table