TOP2A Chromosome 17

DNA topoisomerase II alpha
2 variants 1 Health Risk 1 Protective

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What This Gene Does
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Topoisomerases
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000131747
Associated Conditions (8)
TOP2A-related disorder
Sarcoma
Adrenocortical carcinoma
hereditary
Familial cancer of breast
Dna topoisomerase II
resistance to inhibition of
by amsacrine
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS140672916 Health Risk Conflicting classifications of pathogenicity TOP2A-related disorder, Sarcoma, Adrenocortical carcinoma
RS267607133 Protective protective Dna topoisomerase II, resistance to inhibition of, by amsacrine
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