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Literature summary for 2.7.1.113 extracted from

  • Buchaklian, A.H.; Helbling, D.; Ware, S.M.; Dimmock, D.P.
    Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy (2012), Mol. Genet. Metab., 107, 92-94.
    View publication on PubMed

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion deoxyguanosine kinase is encoded by the nuclear DNA and transported into the mitochondria Homo sapiens 5739
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Source Tissue

Source Tissue Comment Organism Textmining
fibroblast genotyping of the enzyme splicing variants and mutants in fibroblast cell lines Homo sapiens
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Synonyms

Synonyms Comment Organism
DGUOK
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Homo sapiens

General Information

General Information Comment Organism
malfunction loss of enzyme function results in the depletion of mitochondrial DNA relative to nuclear DNA. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy and is the cause of an infantile onset hepatocerebral mitochondrial disease including significant hepatic failure with nystagmus and hypotonia. Mitochondrial DNA depletion in cells from a patient presenting with mitochondrial myopathy caused by a mutation in the enzyme Homo sapiens
physiological function deoxyguanosine kinase is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. The main supply of purine dNTPs for mtDNA synthesis comes from the salvage pathway initiated by the enzyme Homo sapiens