Aliases for TK2 Gene
External Ids for TK2 Gene
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]
GeneCards Summary for TK2 Gene
TK2 (Thymidine Kinase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with TK2 include mitochondrial dna depletion syndrome, myopathic form and mitochondrial dna depletion syndrome 2. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and thymidine kinase activity. An important paralog of this gene is DGUOK.
UniProtKB/Swiss-Prot for TK2 Gene
Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs