DYS antibody, ELP1 antibody, FD antibody, IKAP antibody, IKI3 antibody, TOT1 antibody, IKBKAP antibody, DKFZp469N1415 antibody, 3110040G09Rik antibody, 6030413P05 antibody, C78473 antibody, Elp1 antibody, Ikbkap antibody, elongator complex protein 1 antibody, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein antibody, ielongator complex protein 1 S homeolog antibody, inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein antibody, ELP1 antibody, Elp1 antibody, IKBKAP antibody, elp1.S antibody, elp1 antibody, Ikbkap antibody
Background
The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms.