功能Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.
组织特异性Predominantly expressed in liver, pancreas, muscle, and brain.
疾病相关Defects in TK2 are a cause of mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560]. A disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy.