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Background
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This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome.
Synonyms: IP, IP1, IP2, FIP3, IPD2, NEMO, FIP-3, Fip3p, AMCBX1, ZC2HC9, IKK-gamma
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Pathways
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NF-kappaB Signaling, RTK Signaling, TCR Signaling, TLR Signaling, Fc-epsilon Receptor Signaling Pathway, Activation of Innate immune Response, M Phase, Production of Molecular Mediator of Immune Response, Hepatitis C, Protein targeting to Nucleus, Toll-Like Receptors Cascades
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