Thymidine kinase 2, mitochondrial
Thymidine kinase 2, mitochondrial is a protein that in humans is encoded by the TK2 gene. [5]
Function
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.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000166548 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035824 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: Thymidine kinase 2, mitochondrial". Retrieved 2016-03-19.
Further reading
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