{"symbol":"TK2","synonyms":["SCA31","PEOB3","MTDPS2"],"name":"thymidine kinase 2, mitochondrial","description":"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]","ncbiEntrezGeneId":7084,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7084","proteins":[{"symbol":"KITM_HUMAN","href":"/api/1.0/protein/KITM_HUMAN"}],"hgncRootFamilies":[]}