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.
Alternative names and synonyms associated with TK2
thymidine kinase 2, mitochondrial (TK2) ELISA Kit
thymidine kinase 2, mitochondrial (Tk2) ELISA Kit
thymidine kinase 2, mitochondrial S homeolog (tk2.S) ELISA Kit