Gene Symbol | TK2 |
Entrez Gene ID | 7084 |
Full Name | thymidine kinase 2, mitochondrial |
Synonyms | MTDPS2,MTTK,PEOB3,SCA31 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3); ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3) |