DISEASES

Disease-gene associations mined from literature

Literature associating CEP120 and early infantile epileptic encephalopathy 25

CEP120 [ENSP00000303058]

Coiled-coil domain-containing protein 100; 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); Belongs to the CEP120 family.

Synonyms:  CEP120,  CEP120p,  hCEP120,  D6R8Z4,  D6REX9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM