TK2
Thymidine kinase 2, mitochondrial
Protein-coding gene in the species Homo sapiens
Thymidine kinase 2, mitochondrial is a protein that in humans is encoded by the TK2 gene.[5]
TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TK2, MTDPS2, MTTK, SCA31, thymidine kinase 2, mitochondrial, PEOB3, thymidine kinase 2, TK2-EXT | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 188250 MGI: 1913266 HomoloGene: 3392 GeneCards: TK2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
This kinase is not present in yeast.[6]
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Zeman L, Lusena CV (March 1974). "DNA precursors and the absence of thymidine kinase in yeast mitochondria". FEBS Letters. 40 (1): 84–7. doi:10.1016/0014-5793(74)80899-9. PMID 4604357. S2CID 40059011.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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