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BUB1B BUB1 mitotic checkpoint serine/threonine kinase B

Gene ID: 701, updated on 3-May-2024
Gene type: protein coding
Also known as: MVA1; SSK1; BUBR1; Bub1A; MAD3L; hBUBR1; BUB1beta

Summary

This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Colorectal cancer
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Mosaic variegated aneuploidy syndrome 1
MedGen: C1850343OMIM: 257300GeneReviews: Not available
See labs
Premature chromatid separation trait
MedGen: C1864389OMIM: 176430GeneReviews: Not available
See labs

Genomic context

Location:
15q15.1
Sequence:
Chromosome: 15; NC_000015.10 (40161069..40221123)
Total number of exons:
23

Links

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