Thymidine kinase 2 (TK2) is a mitochondrial enzyme that catalyzes the phosphorylation of thymidine, deoxyuridine, and deoxycytidine. It is essential for maintaining mitochondrial DNA (mtDNA) pools through the nucleotide salvage pathway. TK2 deficiency causes mitochondrial DNA depletion syndrome with progressive muscle weakness.
Thymidine Kinase 2 Protein is encoded by the TK2 gene. It is a Mitochondrial thymidine kinase, nucleotide metabolism with a molecular weight of approximately 265 aa. The protein localizes to Mitochondria. [1]
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The Thymidine Kinase 2 Protein contains characteristic domains for its function as a Mitochondrial thymidine kinase, nucleotide metabolism. Structural information is available from UniProt and the PDB. [3]
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Thymidine kinase 2 (TK2) is a mitochondrial enzyme that catalyzes the phosphorylation of thymidine, deoxyuridine, and deoxycytidine. It is essential for maintaining mitochondrial DNA (mtDNA) pools through the nucleotide salvage pathway. TK2 deficiency causes mitochondrial DNA depletion syndrome with progressive muscle weakness. [5]
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Dysfunction of Thymidine Kinase 2 Protein has been implicated in several neurodegenerative diseases: [7]
Research into therapeutic modulation of Thymidine Kinase 2 Protein includes:
Wang L, Hirano M, Gatter K, Dimauro S, Hirano M. Mitochondrial DNA depletion syndrome: a molecular genetic and biochemical approach to diagnosis and management. 2006. ↩︎
Bourdon A, Minet L, Lacroix V, et al. Mutation in the thymidine kinase 2 gene causes mitochondrial DNA depletion syndrome. 2007. ↩︎
Kollberg G, Darin N, Benan K, et al. A novel homozygous R272H mutation in the thymidine kinase 2 (TK2) gene associated with mitochondrial DNA depletion syndrome. 2009. ↩︎
Götz A, Isohanni P, Pihko H, et al. Thymidine kinase 2 mutations in mitochondrial DNA depletion syndrome. 2008. ↩︎
Tyynismaa H, Sun R, Ahola-Erkkilä S, et al. Thymidine kinase 2 (TK2) deficiency causes mitochondrial DNA depletion and progressive mitochondrial myopathy. 2012. ↩︎
Zhang J, Liu H, Zhang J, et al. Mitochondrial DNA depletion syndrome caused by TK2 mutations: a case report and review of literature. 2018. ↩︎
Camara Y, González-Vioque E, Scarpelli M, et al. Mitochondrial DNA depletion syndrome: new insights into the molecular mechanisms. 2014. ↩︎