|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “forkhead box P3.”
FOXP3 is the gene's official symbol. The FOXP3 gene is also known by other names, listed below.
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. On the basis of this role, 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 regulatory T cells are produced.
The FOXP3 gene belongs to a family of genes called FOX (forkhead box genes).
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.
At least 21 mutations in the FOXP3 gene have been found to cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Most mutations change one 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 result in reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome.
Cytogenetic Location: Xp11.23
Molecular Location on the X chromosome: base pairs 49,250,435 to 49,269,726
The FOXP3 gene is located on the short (p) arm of the X chromosome at position 11.23.
More precisely, the FOXP3 gene is located from base pair 49,250,435 to base pair 49,269,726 on the X chromosome.
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 FOXP3 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.
amino acid ; autoimmune ; autoimmunity ; diabetes ; DNA ; gene ; immune system ; immunodeficiency ; protein ; syndrome ; thymus ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.