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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TK2-20-RE | 20 (40 μL) | 200 μL |  |
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| TK2-20-OR | 20 (40 μL) | 200 μL |  |
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| TK2-20-GO | 20 (40 μL) | 200 μL |  |
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| TK2-20-GR | 20 (40 μL) | 200 μL |  |
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| TK2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : TK2
Gene Name : Thymidine kinase 2, mitochondrial
Chromosome : CHR 16: 665,504,11-665,080,02
Locus : 16q21
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