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.
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Protein Aliases: FIP-3; I-kappa-B kinase gamma; I-kappa-B kinase subunit gamma; IkB kinase gamma subunit; ikB kinase subunit gamma; IkB kinase-associated protein 1; IKKAP1; IKKG; incontinentia pigmenti; Inhibitor of nuclear factor kappa-B kinase gamma subunit; Inhibitor of nuclear factor kappa-B kinase subunit gamma; NEMO; NF-kappa-B essential modifier; NF-kappa-B essential modulator; NF-kappaB essential modifier; NF-kappaB essential modulator
Gene Aliases: AMCBX1; FIP-3; FIP3; Fip3p; IKBKG; IKK-gamma; IKKAP1; IKKG; IMD33; IP; IP1; IP2; IPD2; NEMO; ZC2HC9
UniProt ID: (Human) Q9Y6K9
Entrez Gene ID: (Human) 8517