Disease-gene associations mined from literature

Literature associating CASC5 and primary autosomal recessive microcephaly 2 with or without cortical malformations

CASC5 [ENSP00000335463]

Cancer susceptibility candidate gene 5 protein; Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.

Synonyms:  CASC5,  CASC5p,  hCASC5,  H0YN41,  KNL1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM