Thymidine kinase 2 (TK2) is a mitochondrial enzyme involved in nucleotide salvage for mitochondrial DNA replication. TK2 mutations cause mitochondrial DNA depletion syndrome (MTDPS) characterized by progressive muscle weakness and respiratory failure.
TK2 (Thymidine Kinase 2) is a gene located on chromosome 16q22 that plays an important role in neurodegenerative disease. Mutations in TK2 are associated with Mitochondrial DNA Depletion Syndrome, Myopathy. The gene is catalogued as NCBI Gene ID 7084 and OMIM 609240.
The TK2 gene encodes a protein involved in key neuronal functions. It is expressed in Skeletal muscle, Mitochondria.
Expression data is available from the Allen Human Brain Atlas.
TK2 mutations are linked to the following conditions:
Mitochondrial DNA Depletion Syndrome, Myopathy