DGUOK

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.

Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia.

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• {{cite journal | vauthors = Johansson M, Karlsson A | title = Cloning and expression of human deoxyguanosine kinase cDNA | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 14 | pages = 7258–62 | year = 1996 | pmid = 8692979 | pmc = 38970 | doi = 10.1073/pnas.93.14.7258 | bibcode = 1996PNAS...93.7258J | doi-access = free }}
• {{cite journal | vauthors = Wang L, Hellman U, Eriksson S | title = Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA | journal = FEBS Lett. | volume = 390 | issue = 1 | pages = 39–43 | year = 1996 | pmid = 8706825 | doi = 10.1016/0014-5793(96)00623-0 | s2cid = 24697393 | doi-access = free }}
• {{cite journal | vauthors = Johansson M, Bajalica-Lagercrantz S, Lagercrantz J, Karlsson A | title = Localization of the human deoxyguanosine kinase gene (DGUOK) to chromosome 2p13 | journal = Genomics | volume = 38 | issue = 3 | pages = 450–1 | year = 1997 | pmid = 8975728 | doi = 10.1006/geno.1996.0654 }}
• {{cite journal | vauthors = Jüllig M, Eriksson S | title = Mitochondrial and submitochondrial localization of human deoxyguanosine kinase | journal = Eur. J. Biochem. | volume = 267 | issue = 17 | pages = 5466–72 | year = 2000 | pmid = 10951205 | doi = 10.1046/j.1432-1327.2000.01607.x | doi-access = free }}
• {{cite journal | vauthors = Jüllig M, Eriksson S | title = Apoptosis induces efflux of the mitochondrial matrix enzyme deoxyguanosine kinase | journal = J. Biol. Chem. | volume = 276 | issue = 26 | pages = 24000–4 | year = 2001 | pmid = 11294860 | doi = 10.1074/jbc.M100435200 | doi-access = free }}
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• {{cite journal | vauthors = Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H | title = Structural basis for substrate specificities of cellular deoxyribonucleoside kinases | journal = Nat. Struct. Biol. | volume = 8 | issue = 7 | pages = 616–20 | year = 2001 | pmid = 11427893 | doi = 10.1038/89661 | s2cid = 19972787 }}
• {{cite journal | vauthors = Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N | title = The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA | journal = Nat. Genet. | volume = 29 | issue = 3 | pages = 337–41 | year = 2001 | pmid = 11687800 | doi = 10.1038/ng746 | s2cid = 24485683 }}
• {{cite journal | vauthors = Lotfi K, Månsson E, Peterson C, Eriksson S, Albertioni F | title = Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity | journal = Biochem. Biophys. Res. Commun. | volume = 293 | issue = 5 | pages = 1489–96 | year = 2002 | pmid = 12054684 | doi = 10.1016/S0006-291X(02)00415-1 }}
• {{cite journal | vauthors = Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH | title = Mitochondrial DNA depletion and dGK gene mutations | journal = Ann. Neurol. | volume = 52 | issue = 3 | pages = 311–7 | year = 2002 | pmid = 12205643 | doi = 10.1002/ana.10284 | s2cid = 31217378 }}
• {{cite journal | vauthors = Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H | title = A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA | journal = Ann. Neurol. | volume = 52 | issue = 2 | pages = 237–9 | year = 2002 | pmid = 12210798 | doi = 10.1002/ana.10247 | s2cid = 19664177 }}
• {{cite journal | vauthors = Krawiec K, Kierdaszuk B, Shugar D | title = Inorganic tripolyphosphate (PPP(i)) as a phosphate donor for human deoxyribonucleoside kinases | journal = Biochem. Biophys. Res. Commun. | volume = 301 | issue = 1 | pages = 192–7 | year = 2003 | pmid = 12535661 | doi = 10.1016/S0006-291X(02)03007-3 }}
• {{cite journal | vauthors = Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S | title = Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes | journal = Mol. Genet. Metab. | volume = 84 | issue = 1 | pages = 75–82 | year = 2005 | pmid = 15639197 | doi = 10.1016/j.ymgme.2004.09.005 }}
• {{cite journal | vauthors = Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S | title = New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome | journal = Arch. Neurol. | volume = 62 | issue = 5 | pages = 745–7 | year = 2005 | pmid = 15883261 | doi = 10.1001/archneur.62.5.745 | doi-access = }}
• {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | year = 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R | s2cid = 4427026 }}
• {{cite journal | vauthors = Fyrberg A, Mirzaee S, Lotfi K | title = Cell cycle dependent regulation of deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I activity in MOLT-4 cells | journal = Nucleosides Nucleotides Nucleic Acids | volume = 25 | issue = 9–11 | pages = 1201–4 | year = 2007 | pmid = 17065091 | doi = 10.1080/15257770600894386 | s2cid = 2670663 }}
• {{cite journal | vauthors = Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D | title = Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion | journal = Biochem. J. | volume = 402 | issue = 2 | pages = 377–85 | year = 2007 | pmid = 17073823 | pmc = 1798436 | doi = 10.1042/BJ20060705 }}
• {{cite journal | vauthors = Franco M, Johansson M, Karlsson A | title = Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells | journal = Exp. Cell Res. | volume = 313 | issue = 12 | pages = 2687–94 | year = 2007 | pmid = 17490647 | doi = 10.1016/j.yexcr.2007.04.003 }}

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dguok-mtddepl GeneReview/NIH/UW entry on DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form]

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