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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]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)