EC Number   |
General Information |
Reference |
|---|
    2.7.1.113 | malfunction |
deoxyguanosine kinase deficiency associated with mutations in the deoxyguanosine kinase gene is responsible for hepatic mitochondrial depletion syndrome phenotype, the disease is characterized by tissue-specific pathology. Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features cause lethal progressive liver failure in infants |
722470 |
| 2.7.1.113 | malfunction |
deoxyguanosine kinase deficiency is the commonest type of mitochondrial DNA depletion associated with a hepatocerebral phenotype, deoxyguanosine kinase deficiency is associated with a variable clinical phenotype, long-term survival is best predicted by the absence of profound hypotonia, significant psychomotor retardation, or nystagmus. In the presence of these features, there is increased mortality, and liver transplantation does not confer increased survival |
705474 |
| 2.7.1.113 | malfunction |
dGK depletion in cells results in lower sensitivity to 2-fluoro-9-beta-D-arabinofuranosyladenine, gemcitabine, clofarabine, and 9-beta-D-arabinofuranosylguanine, but slightly higher sensitivity to cladribine and cytarabine |
705997 |
| 2.7.1.113 | 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 |
723198 |
| 2.7.1.113 | malfunction |
mitochondrial DNA depletion due to deoxyguanosine kinase deficiency is a devastating mitochondrial disease of infancy characterized by liver failure and encephalopathy and invariably a fatal outcome. The cytoplasmic deoxycytine kinase supplemented with external substrates may compensate for the deficient deoxyguanosine kinase |
705750 |
| 2.7.1.113 | malfunction |
mutations in deoxyguanosine kinase cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus, and hypotonia |
703966 |
| 2.7.1.113 | malfunction |
the depletion of the enzyme robustly inhibits lung adenocarcinoma tumor growth, metastasis, and cancer stem-like cell self-renewal |
760985 |
| 2.7.1.113 | 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 |
723198 |
| 2.7.1.113 | physiological function |
the enzyme is required for cancer cell stemness in lung adenocarcinoma. The enzyme is required for the biogenesis of respiratory complex I and mitochondrial oxidative phosphorylation, which in turn regulates cancer stem-like cell self-renewal through AMP-activated kinase-YAP1 signaling |
760985 |
