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  • Human TK2 wild-type allele is located within 16q22-q23.1 and is approximately 40 kb in length. This allele, which encodes thymidine kinase 2, mitochondrial protein, is involved in the mitochondrial salvage pathway and plays a role in the phosphorylation of thymidine, deoxycytidine, and deoxyuridine. Certain allelic variants of the TK2 gene are associated with myopathic mitochondrial DNA depletion syndrome.
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