| Entrez Gene ID | 116447 |
|---|---|
| Official Gene Symbol | TOP1MT (GeneCards) |
| Full name | DNA topoisomerase I mitochondrial |
| Location | 8q24.3 |
| Other ids | Vega : OTTHUMG00000164979 MIM : 606387 HGNC : HGNC:29787 Ensembl : ENSG00000184428 |
| Other names | None |
| Summary | 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1562 | 116447 | TOP1MT | 8 | 144397947 | 144397947 | Autism Spectrum Disorders | NextSeq500 v2 |
| 26783 | 116447 | TOP1MT | 8 | 144436448 | 144436448 | Asymptomatic | NextSeq500 v2 Single cell Sequencing Cell cloning |