TOP1MT Chromosome 8
DNA topoisomerase I mitochondrial
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What This Gene Does
This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Topoisomerases|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000184428
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150737353 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201977682 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS577773438 | Health Risk | Conflicting classifications of pathogenicity | — |