CASC5

CASC5 is a is_associated_with::protein that is encoded by the CASC5 is_associated_with::gene in humans.

Function
CASC5 is part of the is_associated_with::kinetochore. It is involved in is_associated_with::microtubule attachment to chromosome centromeres and in the activation of the is_associated_with::spindle checkpoint during mitosis. The CASC5 gene is is_associated_with::upregulated in the areas of cell proliferation surrounding the ventricles during fetal brain development.

Interactions
CASC5 has been shown to interact with is_associated_with::MIS12, is_associated_with::BUB1, BUBR1 and ZWINT-1.

Polymorphisms
Homozygous polymorphisms in the CASC5 gene have been seen in patients with autosomal recessive primary is_associated_with::microcephaly (MCPH). The mutation resulted in the skipping of exon 18 transcription, causing a is_associated_with::frameshift and the production of a truncated protein. This truncation inhibits the binding ability of MIS12.