| Gene Symbol | TK2 |
| Entrez Gene ID | 7084 |
| Full Name | thymidine kinase 2, mitochondrial |
| Synonyms | MTDPS2,MTTK,PEOB3,SCA31 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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 encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]. |
| Disorder MIM: | |
| Disorder Html: | Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3); ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3) |
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