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URL of this page: https://medlineplus.gov/genetics/gene/dguok/

DGUOK gene

deoxyguanosine kinase

Normal Function

The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are the energy-producing centers inside the cell. Mitochondria each contain their own DNA, known as mitochondrial DNA or mtDNA, that is essential for their normal function. Deoxyguanosine kinase is involved in producing and maintaining the building blocks (nucleosides) that make up mtDNA.

Health Conditions Related to Genetic Changes

Deoxyguanosine kinase deficiency

Many variants (also called mutations) in the DGUOK gene have been identified in people with deoxyguanosine kinase deficiency, an inherited disorder that can disrupt the normal function of the liver, muscles, and brain. Some of these variants change single protein building blocks (amino acids) in the deoxyguanosine kinase enzyme. Other variants cause cells to produce an abnormally short, nonfunctional version of the enzyme or change the way in which the gene is processed.

Variants in the DGUOK gene that cause deoxyguanosine kinase deficiency reduce or eliminate the activity of the deoxyguanosine kinase enzyme. Reduced enzyme activity leads to problems with the production and maintenance of mtDNA. A decrease in the amount of mtDNA (known as mtDNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the brain, liver, and muscle dysfunction associated with deoxyguanosine kinase deficiency.

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Other Names for This Gene

  • deoxyguanosine kinase, mitochondrial
  • DGK
  • dGK

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rotig A, Bonnefont JP, Lebre AS. The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Citation on PubMed
  • Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Citation on PubMed
  • El-Hattab AW, Scaglia F. Deoxyguanosine Kinase Deficiency. 2009 Jun 18 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK7040/ Citation on PubMed
  • Freisinger P, Futterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. 2006 Aug;63(8):1129-34. doi: 10.1001/archneur.63.8.1129. Citation on PubMed
  • Keshavan N, Rahman S. Natural history of deoxyguanosine kinase deficiency. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108554. doi: 10.1016/j.ymgme.2024.108554. Epub 2024 Jul 24. Citation on PubMed
  • Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol. 2005 May;62(5):745-7. doi: 10.1001/archneur.62.5.745. Citation on PubMed
  • Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Erratum In: Nat Genet 2001 Dec;29(4):491. Citation on PubMed
  • Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1205-15. doi: 10.1081/NCN-200027480. Citation on PubMed
  • Salviati L, Sacconi S, Mancuso M, Otaegui D, Camano P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Citation on PubMed
  • Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. 2005 Dec;86(4):462-5. doi: 10.1016/j.ymgme.2005.09.006. Epub 2005 Nov 2. Citation on PubMed
  • Wang L, Eriksson S. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. FEBS Lett. 2003 Nov 20;554(3):319-22. doi: 10.1016/s0014-5793(03)01181-5. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.