Disease-gene associations mined from literature

Literature associating CEP63 and primary autosomal recessive microcephaly 5

CEP63 [ENSP00000336524]

Centrosomal protein of 63 kDa; Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression.

Synonyms:  CEP63,  CEP63p,  hCEP63,  D6R9Q4,  D6RAY6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM