|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. This enzyme is found in the thyroid gland, which is a butterfly-shaped tissue in the lower neck. The enzyme is also found in 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).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Researchers have identified several DUOX2 gene mutations that cause congenital hypothyroidism, a condition characterized by a reduction of thyroid hormone levels that is present from birth. 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. Because cases caused by mutations in the DUOX2 gene are due to a disruption of thyroid hormone synthesis, they are classified as thyroid dyshormonogenesis.
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 congenital hypothyroidism is temporary (transient), and thyroid hormone levels that are low during infancy increase with age.
Cytogenetic Location: 15q15.3
Molecular Location on chromosome 15: base pairs 45,092,653 to 45,114,161
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 45,092,653 to base pair 45,114,161 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; adenine ; cell ; congenital ; digestive ; enzyme ; gene ; goiter ; hormone ; hydrogen peroxide ; hypothyroidism ; metabolism ; mutation ; oxidase ; phosphate ; synthesis ; thyroid ; thyroid hormones ; tissue ; transient
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.