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Rabbit Anti-Thymidine kinase 2 antibody
This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012].
Function:
Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Predominantly expressed in liver, pancreas, muscle, and brain.
DISEASE:
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.
Similarity:
Belongs to the DCK/DGK family.
SWISS:
O00142
Gene ID:
7084
Database links:
Entrez Gene: 7084 Human
Entrez Gene: 57813 Mouse
Omim: 188250 Human
SwissProt: O00142 Human
SwissProt: Q9R088 Mouse
Unigene: 512619 Human
Unigene: 183110 Mouse
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