Disease-gene associations mined from literature

Literature associating CEP152 and primary autosomal recessive microcephaly 3

CEP152 [ENSP00000370337]

Centrosomal protein of 152 kDa; Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles.

Synonyms:  CEP152,  CEP152p,  hCEP152,  CEP152-001,  CEP152-002 ...

Linkouts:  STRING  Pharos  UniProt