Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : email@example.com
|Synonyms||Bub1A | BUB1beta | BUBR1 | hBUBR1 | MAD3L | MVA1 | SSK1|
|Gene Description||BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B, is a core component of the spindle assembly checkpoint that regulates chromosome segregation and maintains genome stability (PMID: 25256220, PMID: 25964054). Germline BUB1B mutations are associated with mosaic variegated aneuploidy and increased Wilms tumor susceptibility (PMID: 15475955, PMID: 28553959), and have been identified in early-onset colorectal cancer (PMID: 27239782), and somatic mutations have been identified in adult T-cell leukemia/lymphoma (PMID: 10960763) and glioblastomas (PMID: 11355300).|