title: IKK regulation and human genetics.
abstract: The IKK kinase complex is the core element of the NF-κB cascade. It is essentially made of two kinases (IKKα and IKKβ) and a regulatory subunit, NEMO/IKKγ. Additional components may exist, transiently or permanently, but their characterization is still uncertain. In this review, we will focus on the NEMO molecule, and describe the results which have been obtained, and the hypotheses which have been proposed, to explain how NEMO controls the activation of the IKK complex. NEMO is one of the very few non-redundant components of the NF-κB cascade, and the localization of the gene that encodes it on the X chromosome suggests it is likely to be the target of mutations leading to pathologies: this is indeed the case, and we will also present the current status of our knowledge regarding NEMO-associated pathologies.
authors.affiliation: INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Gilles
authors.initials: G
authors.lastname: Courtois
authors.forename: Alain
authors.initials: A
authors.lastname: Israël
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics; D006801:Humans; D051550:I-kappa B Kinase / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D007184:Incontinentia Pigmenti / Q000209:etiology / Q000235:genetics; D011499:Protein Processing, Post-Translational
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase