BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
Gene ID: 701, updated on 28-Oct-2024Gene type: protein coding
Also known as: MVA1; SSK1; BUBR1; Bub1A; MAD3L; hBUBR1; BUB1beta
- See all available tests in GTR for this gene
- Go to complete Gene record for BUB1B
- Go to Variation Viewer for BUB1B variants
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
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Colorectal cancer | See labs |
| Mosaic variegated aneuploidy syndrome 1 | See labs |
| Premature chromatid separation trait | See labs |
Genomic context
- Location:
- 15q15.1
- Sequence:
- Chromosome: 15; NC_000015.10 (40161069..40221123)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BUB1B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BUB1B database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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