| Protein Name | thymidine kinase 2 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 7084 |
| Gene Symbol | TK2 |
| UniProt | O00142 (KITM_HUMAN), B4DIW4 (B4DIW4_HUMAN), J3QRP0 (J3QRP0_HUMAN), A4IF54 (A4IF54_HUMAN), A5PLM0 (A5PLM0_HUMAN), B4E0Z4 (B4E0Z4_HUMAN), Q8IZR3 (Q8IZR3_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
125
Total Number of Articles : 109 |
Description |
thymidine kinase 2 |
| 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] |
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| Properties | |