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DUOX2

DUOX2

Reviewed May 2006

What is the official name of the DUOX2 gene?

The official name of this gene is “dual oxidase 2.”

DUOX2 is the gene's official symbol. The DUOX2 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 DUOX2 gene?

The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. This enzyme is found in the thyroid gland (a butterfly-shaped tissue in the lower neck), salivary glands, the digestive tract, and airways in the throat and lungs. Dual oxidase 2 helps generate a chemical called hydrogen peroxide. In the thyroid, hydrogen peroxide is required for one of the final steps in the production of thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).

Does the DUOX2 gene share characteristics with other genes?

The DUOX2 gene belongs to a family of genes called EF-hand domain containing (EF-hand domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the DUOX2 gene related to health conditions?

congenital hypothyroidism - caused by mutations in the DUOX2 gene

Researchers have identified several DUOX2 gene mutations that cause congenital hypothyroidism. Most of these mutations result in an abnormally small version of the dual oxidase 2 enzyme. The remaining mutations change one of the building blocks (amino acids) used to make the enzyme, which probably alters the enzyme's structure. All DUOX2 gene mutations limit the enzyme's ability to generate hydrogen peroxide. Without sufficient hydrogen peroxide, thyroid hormone production is disrupted. In some cases, the thyroid gland is enlarged (goiter) in an attempt to compensate for reduced thyroid hormone production.

The reduction in thyroid hormone production is affected by the number of DUOX2 genes with a mutation. Each cell in the body has two copies of the DUOX2 gene. If both copies of the gene have a mutation, cells in the thyroid gland generate very little hydrogen peroxide. As a result, thyroid hormone levels are extremely low, causing severe congenital hypothyroidism. If only one copy of the DUOX2 gene is mutated, some hydrogen peroxide is produced. As a result, thyroid hormone levels are slightly reduced, causing mild congenital hypothyroidism. Sometimes, mild hypothyroidism is temporary (transient), and thyroid hormone levels that are low during infancy increase with age.

Where is the DUOX2 gene located?

Cytogenetic Location: 15q15.3

Molecular Location on chromosome 15: base pairs 45,092,652 to 45,114,160

The DUOX2 gene is located on the long (q) arm of chromosome 15 at position 15.3.

The DUOX2 gene is located on the long (q) arm of chromosome 15 at position 15.3.

More precisely, the DUOX2 gene is located from base pair 45,092,652 to base pair 45,114,160 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DUOX2?

You and your healthcare professional may find the following resources about DUOX2 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 DUOX2 gene or gene products?

  • DUOX2_HUMAN
  • flavoprotein NADPH oxidase
  • LNOX2
  • NADPH thyroid oxidase 2
  • nicotinamide adenine dinucleotide phosphate oxidase
  • NOXEF2
  • P138-TOX
  • THOX2

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 DUOX2?

acids ; adenine ; cell ; congenital ; digestive ; enzyme ; gene ; goiter ; hormone ; hydrogen peroxide ; hypothyroidism ; metabolism ; mutation ; oxidase ; phosphate ; thyroid ; thyroid hormones ; tissue ; transient

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

See also Understanding Medical Terminology.

References (9 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: May 2006
Published: December 22, 2014