Gene Detail
Contact
Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
| Gene Symbol | BUB1B | ||||||||||
| 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). | ||||||||||
|
|||||||||||
Additional content available in 
CKB BOOST
CKB BOOST
