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DGUOK

DGUOK

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.

Read more about gene names and symbols on the About page.

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.

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? 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.

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
  • dGK
  • DGUOK_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DGUOK?

acids ; deficiency ; depletion ; DNA ; enzyme ; gene ; kinase ; mitochondria ; neurological ; precursor ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: December 2009
Published: November 24, 2014