Species Human Entrez 57082 | Human Mouse Ensembl ENSG00000137812 | |
Aliases KNL1, AF15Q14, CT29, D40, PPP1R55, Spc7, hKNL-1, hSpc105, CASC5, MCPH4, cancer susceptibility candidate 5, kinetochore scaffold 1 External IDs MGI: 1923714 HomoloGene: 44890 GeneCards: KNL1 | ||
CASC5 is a protein that is encoded by the CASC5 gene in humans.
Contents
Function
CASC5 is part of the kinetochore. It is involved in microtubule attachment to chromosome centromeres and in the activation of the spindle checkpoint during mitosis. The CASC5 gene is upregulated in the areas of cell proliferation surrounding the ventricles during fetal brain development.
Interactions
CASC5 has been shown to interact with MIS12, BUB1, BUBR1 and ZWINT-1.
Polymorphisms
Homozygous polymorphisms in the CASC5 gene have been seen in patients with autosomal recessive primary microcephaly (MCPH). The mutation resulted in the skipping of exon 18 transcription, causing a frameshift and the production of a truncated protein. This truncation inhibits the binding ability of MIS12.
References
CASC5 Wikipedia(Text) CC BY-SA