Entrez gene ID | | 7084 |
Official gene symbol | | TK2 |
Full name | | thymidine kinase 2, mitochondrial |
Aliases | | ,MTTK, |
Gene summary | | This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants. |
Location | | Chromosome: 16 Locus: 16q22-q23.1 |
Gene position | | 66584315 - 66541906 Map Viewer |
Gene orientation | | minus |
Gene size | | 42410 bp |
Gene sequence |
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OMIM ID | | 188250 |
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