Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Kinase Gamma (IkBKg)

IKBKg encodes the regulatory subunit of the inhibitor of kappaB kinase 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.The 2.8-kb NEMO cDNA encodes a 412-amino acid protein that is acidic, rich in glutamic acid and glutamine residues, and contains a leucine zipper motif at amino acids 315-342. NEMO also complemented the 1.3E2 mutant cell line, in which NFKB is not activated in response to a large set of stimuli.