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    Topic review

    NFKBIA Gene

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    Submitted by: Lily Guo
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    NFKB inhibitor alpha

    1. Introduction

    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).

    2. Health Conditions Related to Genetic Changes

    2.1. Anhidrotic ectodermal dysplasia with immune deficiency

    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.

    3. Other Names for This Gene

    • I-kappa-B-alpha
    • IkappaBalpha
    • ikB-alpha
    • IKBA
    • IKBA_HUMAN
    • MAD-3
    • major histocompatibility complex enhancer-binding protein MAD3
    • NF-kappa-B inhibitor alpha
    • NFKBI
    • nuclear factor of kappa light chain gene enhancer in B-cells
    • nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha

    This entry is adapted from https://medlineplus.gov/genetics/gene/nfkbia

    References

    1. Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A,Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL. Ahypermorphic IkappaBalpha mutation is associated with autosomal dominantanhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003 Oct;112(7):1108-15.
    2. Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidroticectodermal dysplasia with immunodeficiency. Allergol Int. 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. Review.
    3. McDonald DR, Mooster JL, Reddy M, Bawle E, Secord E, Geha RS. HeterozygousN-terminal deletion of IkappaBalpha results in functional nuclear factor kappaBhaploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy ClinImmunol. 2007 Oct;120(4):900-7.
    4. Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders ofNF-kappaB-mediated immunity in man. Curr Opin Immunol. 2004 Feb;16(1):34-41.Review.
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