DGUOK
DGUOK
Protein-coding gene in the species Homo sapiens
Deoxyguanosine kinase, mitochondrial is an enzyme that in humans is encoded by the DGUOK gene.[5]
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In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene.[5]
Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia.
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- Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S (2005). "Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes". Mol. Genet. Metab. 84 (1): 75–82. doi:10.1016/j.ymgme.2004.09.005. PMID 15639197.
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- Fyrberg A, Mirzaee S, Lotfi K (2007). "Cell cycle dependent regulation of deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I activity in MOLT-4 cells". Nucleosides Nucleotides Nucleic Acids. 25 (9–11): 1201–4. doi:10.1080/15257770600894386. PMID 17065091. S2CID 2670663.
- Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D (2007). "Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion". Biochem. J. 402 (2): 377–85. doi:10.1042/BJ20060705. PMC 1798436. PMID 17073823.
- Franco M, Johansson M, Karlsson A (2007). "Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells". Exp. Cell Res. 313 (12): 2687–94. doi:10.1016/j.yexcr.2007.04.003. PMID 17490647.
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