forkhead box P3
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.
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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- immune dysregulation, polyendocrinopathy, enteropathy, X-linked
- immunodeficiency, polyendocrinopathy, enteropathy, X-linked