DISEASES

Disease-gene associations mined from literature

Literature associating CEP97 and Joubert syndrome 1

CEP97 [ENSP00000342510]

Centrosomal protein of 97 kDa; Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome.

Synonyms:  CEP97,  CEP97p,  hCEP97,  E9PG22,  F8WF91 ...

Linkouts:  STRING  Pharos  UniProt  OMIM