DISEASES

Disease-gene associations mined from literature

Literature associating CEP152 and mosaic variegated aneuploidy syndrome

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 . ECO:0000269|PubMed:20852615, ECO:0000269|PubMed:21059844,

Synonyms:  CEP152,  CEP152p,  hCEP152,  A0A075B719,  H0YMG1 ...

Linkouts:  STRING  Pharos  UniProt