| ncRNA Symbol: | TK2 | | Full Name: | thymidine kinase 2, mitochondrial | | Category: | mRNA | | Synonyms: | MTDPS2|MTTK|PEOB3|SCA31 | | Chromosome: | chr16 | | Strand: | - | | Coordinate: | | Start Site(bp): | 66508003 | End Site(bp): | 66552544 | | | 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 encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012] | | External Links: | |
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