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Reviewed August 2007
What is the official name of the AIRE gene?
The official name of this gene is “autoimmune regulator.”
AIRE is the gene's official symbol. The AIRE gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the AIRE gene?
The AIRE gene provides instructions for making a protein called the autoimmune regulator. This protein is active primarily in the thymus, which is a gland located behind the breastbone that plays an important role in immune system function. Specifically, the thymus produces infection-fighting cells called T cells.
For a person to remain healthy, immune system cells such as T cells must be able to identify and destroy potentially harmful invaders (such as bacteria and viruses) while sparing the body's normal tissues. The autoimmune regulator protein plays an important role in this process by helping T cells distinguish the body's own proteins from those of foreign invaders. When this system is working properly, it prevents the immune system from turning against itself and attacking healthy tissues by mistake. This abnormal reaction is called autoimmunity. In the thymus, the autoimmune regulator protein helps control the activity of certain genes that protect against autoimmunity.
Researchers continue to study the autoimmune regulator protein to clarify its role in autoimmunity and to determine whether it has additional functions.
How are changes in the AIRE gene related to health conditions?
Where is the AIRE gene located?
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 45,705,720 to 45,718,101
The AIRE gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the AIRE gene is located from base pair 45,705,720 to base pair 45,718,101 on chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about AIRE?
You and your healthcare professional may find the following resources about AIRE helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the AIRE gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding AIRE?
acids ; autoimmune ; autoimmune disease ; autoimmunity ; bacteria ; candidiasis ; epithelial ; gene ; hormone ; immune system ; infection ; inflammation ; protein ; syndrome ; thymus ; thyroid ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
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? in the Handbook.