TK2
Function
Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK (PubMed:9989599). Widely used as target of antiviral and chemotherapeutic agents (PubMed:9989599).
Involvement in disease
Mitochondrial DNA depletion syndrome 2
MTDPS2
A disorder due to mitochondrial dysfunction characterized 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
PEOB3
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DCK/DGK family.
Tissue Specificity
Predominantly expressed in liver, pancreas, muscle, and brain.
Cellular localization
- Mitochondrion
Alternative names
2'-deoxyuridine kinase TK2, Deoxycytidine kinase TK2, Mt-TK, TK2