DYS antikoerper, ELP1 antikoerper, FD antikoerper, IKAP antikoerper, IKI3 antikoerper, TOT1 antikoerper, IKBKAP antikoerper, DKFZp469N1415 antikoerper, 3110040G09Rik antikoerper, 6030413P05 antikoerper, C78473 antikoerper, Elp1 antikoerper, Ikbkap antikoerper, elongator complex protein 1 antikoerper, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein antikoerper, ielongator complex protein 1 S homeolog antikoerper, inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein antikoerper, ELP1 antikoerper, Elp1 antikoerper, IKBKAP antikoerper, elp1.S antikoerper, elp1 antikoerper, Ikbkap antikoerper
Hintergrund
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.