Reviewed December 2009
What is the official name of the DGUOK gene?
The official name of this gene is “deoxyguanosine kinase.”
DGUOK is the gene's official symbol. The DGUOK gene is also known by other names, listed below.
What is the normal function of the DGUOK gene?
The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Deoxyguanosine kinase is involved in producing and maintaining the building blocks of mitochondrial DNA.
How are changes in the DGUOK gene related to health conditions?
- deoxyguanosine kinase deficiency - caused by mutations in the DGUOK gene
Approximately 40 mutations in the DGUOK gene have been identified in people with deoxyguanosine kinase deficiency. Some of these mutations change single protein building blocks (amino acids) in the deoxyguanosine kinase enzyme. Other mutations result in an abnormally shortened, nonfunctional enzyme or cause the enzyme to be pieced together incorrectly.
Mutations in the DGUOK gene reduce or eliminate the activity of the deoxyguanosine kinase enzyme. Reduced enzyme activity leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the neurological and liver dysfunction associated with deoxyguanosine kinase deficiency.
Where is the DGUOK gene located?
Cytogenetic Location: 2p13
Molecular Location on chromosome 2: base pairs 73,926,825 to 73,958,960
The DGUOK gene is located on the short (p) arm of chromosome 2 at position 13.
More precisely, the DGUOK gene is located from base pair 73,926,825 to base pair 73,958,960 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about DGUOK?
You and your healthcare professional may find the following resources about DGUOK helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((DGUOK%5BTIAB%5D)%20OR%20(deoxyguanosine%20kinase%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601465)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1716)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2858)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1716)
What other names do people use for the DGUOK gene or gene products?
- deoxyguanosine kinase isoform a precursor
- deoxyguanosine kinase isoform b precursor
- deoxyguanosine kinase, mitochondrial
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding DGUOK?
You may find definitions for these and many other terms in the Genetics Home Reference
- Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig 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. (http://www.ncbi.nlm.nih.gov/pubmed/19394258?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18205204?dopt=Abstract)
- Freisinger P, Fütterer 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, Horváth R. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. 2006 Aug;63(8):1129-34. (http://www.ncbi.nlm.nih.gov/pubmed/16908739?dopt=Abstract)
- Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form (http://www.ncbi.nlm.nih.gov/books/NBK7040/)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/15883261?dopt=Abstract)
- 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. Erratum in: Nat Genet 2001 Dec;29(4):491. (http://www.ncbi.nlm.nih.gov/pubmed/11687800?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1716)
- OMIM: DEOXYGUANOSINE KINASE (http://omim.org/entry/601465)
- Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1205-15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15571232?dopt=Abstract)
- 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. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol. 2002 Sep;52(3):311-7. (http://www.ncbi.nlm.nih.gov/pubmed/12205643?dopt=Abstract)
- Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig 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. Epub 2005 Nov 2. (http://www.ncbi.nlm.nih.gov/pubmed/16263314?dopt=Abstract)
- Wang L, Eriksson S. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. FEBS Lett. 2003 Nov 20;554(3):319-22. (http://www.ncbi.nlm.nih.gov/pubmed/14623087?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.