Gene: BUB1

Alternate names for this Gene: BUB1A|BUB1L|hBUB1

Gene Summary: This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q13

Description of this Gene: BUB1 mitotic checkpoint serine/threonine kinase

Type of Gene: protein-coding

rs140983998 in BUB1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.