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The official name of this gene is “nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha.”
NFKBIA is the gene's official symbol. The NFKBIA gene is also known by other names, listed below.
The NFKBIA gene provides instructions for making one piece (the alpha subunit) of the IKK protein complex, which is a group of related proteins that regulates the activity of nuclear factor-kappa-B. Nuclear factor-kappa-B is a protein complex that binds to DNA and controls the activity of other genes. When it is turned off (inactive), nuclear factor-kappa-B is attached (bound) to the IKK complex. In response to certain signals, the IKK complex turns on (activates) nuclear factor-kappa-B and releases it.
The NFKBIA protein helps keep nuclear factor-kappa-B bound in the IKK complex. When the NFKBIA protein receives a signal that nuclear factor-kappa-B is to be released, it breaks down so the factor can be turned on (activated) and released from the complex. Once the active factor is released, it moves into the nucleus and binds to DNA. Nuclear factor-kappa-B regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. Nuclear factor-kappa-B also appears to play a role in the signaling pathway that is critical for the formation of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, it protects the cell from certain signals that would otherwise cause it to self-destruct (undergo apoptosis).
The NFKBIA gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
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 five mutations in the NFKBIA gene have been found to cause anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID). EDA-ID is a condition characterized by reduced function of the immune system, resulting in recurrent infections, and abnormal development of ectodermal tissues. The NFKBIA gene mutations that cause EDA-ID impair the protein's breakdown. As a result, nuclear factor-kappa-B is not activated or released from the IKK complex. Without nuclear factor-kappa-B available in the nucleus to regulate gene activity, certain signaling pathways within immune cells and cells that form ectodermal tissues are disrupted, resulting in immune deficiency and incomplete development of tissues of the ectoderm as occurs in individuals with EDA-ID.
Cytogenetic Location: 14q13
Molecular Location on chromosome 14: base pairs 35,401,509 to 35,404,753
The NFKBIA gene is located on the long (q) arm of chromosome 14 at position 13.
More precisely, the NFKBIA gene is located from base pair 35,401,509 to base pair 35,404,753 on chromosome 14.
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 NFKBIA 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.
apoptosis ; B-cells ; cell ; deficiency ; DNA ; dysplasia ; ectoderm ; enhancer ; gene ; immune system ; nucleus ; phosphorylation ; protein ; subunit
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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.