TOP1 Chromosome 20

DNA topoisomerase I
2 variants 2 Health Risk

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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 enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Topoisomerases
Locus Type
gene with protein product
Location
20q12
Ensembl
ENSG00000198900
Associated Conditions (3)
Autism spectrum disorder
DNA topoisomerase I
camptothecin-resistant
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS2034059953 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS121434562 Health Risk Pathogenic DNA topoisomerase I, camptothecin-resistant, DNA topoisomerase I
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