TOPBP1 Chromosome 3
DNA topoisomerase II binding protein 1
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What This Gene Does
This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BRCA1 B complex
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000163781
Associated Conditions (1)
TOPBP1-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138529143 | Health Risk | Conflicting classifications of pathogenicity | TOPBP1-related disorder, TOPBP1-related disorder |