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FOXP3 gene

forkhead box P3
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Normal Function

The FOXP3 gene provides instructions for producing the forkhead box P3 (FOXP3) protein. The FOXP3 protein attaches (binds) to specific regions of DNA and helps control the activity of genes that are involved in regulating the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body.

On the basis of its role in controlling gene activity, the FOXP3 protein is called a transcription factor. This protein is essential for the production and normal function of certain immune cells called regulatory T cells, which play an important role in preventing autoimmunity. Autoimmunity occurs when the body attacks its own tissues and organs by mistake. The FOXP3 protein is found primarily in an immune system gland called the thymus, where these regulatory T cells are produced.

Health Conditions Related to Genetic Changes

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

More than 60 mutations in the FOXP3 gene have been found to cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare condition is characterized by the development of multiple autoimmune disorders in affected individuals, typically affecting the intestines, skin, and hormone-producing (endocrine) glands. Most of the FOXP3 gene mutations involved in IPEX syndrome change a protein building block (amino acid) in the region of the FOXP3 protein that binds to DNA or lead to the production of an abnormally short, nonfunctional protein. Mutations in the FOXP3 gene impair the normal function of regulatory T cells. Without the function of these cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders that develop in people with IPEX syndrome.

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Hashimoto thyroiditis

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Type 1 diabetes

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Other Names for This Gene

  • AIID
  • DIETER
  • FOXP3_HUMAN
  • immune dysregulation, polyendocrinopathy, enteropathy, X-linked
  • immunodeficiency, polyendocrinopathy, enteropathy, X-linked
  • IPEX
  • JM2
  • MGC141961
  • MGC141963
  • PIDX
  • scurfin
  • XPID

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun;116(6):1713-22. Citation on PubMed or Free article on PubMed Central
  • Bin Dhuban K, Piccirillo CA. The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):525-32. doi: 10.1097/ACI.0000000000000214. Review. Citation on PubMed
  • Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, Kobayashi I, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T. Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol. 2007 Dec;125(3):237-46. Epub 2007 Oct 3. Citation on PubMed
  • Nik Tavakoli N, Hambly BD, Sullivan DR, Bao S. Forkhead box protein 3: essential immune regulatory role. Int J Biochem Cell Biol. 2008;40(11):2369-73. Epub 2007 Oct 10. Review. Citation on PubMed
  • Otsubo K, Kanegane H, Kamachi Y, Kobayashi I, Tsuge I, Imaizumi M, Sasahara Y, Hayakawa A, Nozu K, Iijima K, Ito S, Horikawa R, Nagai Y, Takatsu K, Mori H, Ochs HD, Miyawaki T. Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol. 2011 Oct;141(1):111-20. doi: 10.1016/j.clim.2011.06.006. Epub 2011 Jul 12. Citation on PubMed
  • Tan QKG, Louie RJ, Sleasman JW. IPEX Syndrome. 2004 Oct 19 [updated 2018 Jul 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1118/ Citation on PubMed
  • Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol. 2007 Oct;120(4):744-50; quiz 751-2. Review. Citation on PubMed
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