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URL of this page: https://medlineplus.gov/genetics/gene/duox2/

DUOX2 gene

dual oxidase 2

Normal Function

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).

Health Conditions Related to Genetic Changes

Congenital hypothyroidism

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.

More About This Health Condition

Other Names for This Gene

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

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

  • De Deken X, Wang D, Dumont JE, Miot F. Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. Exp Cell Res. 2002 Feb 15;273(2):187-96. doi: 10.1006/excr.2001.5444. Citation on PubMed
  • El Hassani RA, Benfares N, Caillou B, Talbot M, Sabourin JC, Belotte V, Morand S, Gnidehou S, Agnandji D, Ohayon R, Kaniewski J, Noel-Hudson MS, Bidart JM, Schlumberger M, Virion A, Dupuy C. Dual oxidase2 is expressed all along the digestive tract. Am J Physiol Gastrointest Liver Physiol. 2005 May;288(5):G933-42. doi: 10.1152/ajpgi.00198.2004. Epub 2004 Dec 9. Citation on PubMed
  • Forteza R, Salathe M, Miot F, Forteza R, Conner GE. Regulated hydrogen peroxide production by Duox in human airway epithelial cells. Am J Respir Cell Mol Biol. 2005 May;32(5):462-9. doi: 10.1165/rcmb.2004-0302OC. Epub 2005 Jan 27. Citation on PubMed
  • Geiszt M, Witta J, Baffi J, Lekstrom K, Leto TL. Dual oxidases represent novel hydrogen peroxide sources supporting mucosal surface host defense. FASEB J. 2003 Aug;17(11):1502-4. doi: 10.1096/fj.02-1104fje. Epub 2003 Jun 3. Citation on PubMed
  • Jin HY, Heo SH, Kim YM, Kim GH, Choi JH, Lee BH, Yoo HW. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr. 2014;82(4):252-60. doi: 10.1159/000362235. Epub 2014 Sep 20. Citation on PubMed
  • Varela V, Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Targovnik HM. Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clin Chem. 2006 Feb;52(2):182-91. doi: 10.1373/clinchem.2005.058321. Epub 2005 Dec 1. Citation on PubMed
  • Wang F, Lu K, Yang Z, Zhang S, Lu W, Zhang L, Liu S, Yan S. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes. Clin Endocrinol (Oxf). 2014 Sep;81(3):452-7. doi: 10.1111/cen.12469. Epub 2014 May 19. Citation on PubMed

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