Synonyms:ENTREZ:7084, HGNC:11831, MIM:188250, MTDPS2, MTTK, NM_001172643, NM_001172644, NM_001172645, NM_001271934, NM_001271935, NM_001272050, NM_004614, NP_001166114, NP_001166115, NP_001166116, NP_001258863, NP_001258864, NP_001258979, NP_004605, NR_073520, NR_073521, PEOB3, SCA31, TK2, thymidine kinase 2
Omim:OMIM:188250
Id:fb60d0e6-6d92-5485-9c4a-9ffbb28823ca
Hgnc:HGNC:11831
Description:thymidine kinase 2
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]