Disease-gene associations mined from literature

Literature associating CEP135 and primary autosomal recessive microcephaly 3

CEP135 [ENSP00000257287]

Centrosomal protein of 135 kDa; Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole; Belongs to the CEP135/TSGA10 family.

Synonyms:  CEP135,  CEP135p,  hCEP135,  Q66GS9,  CEP4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM