Synonyms: DKFZp781H1425,DYS,Dysautonomia (Riley Day syndrome hereditary sensory autonomic neuropathy type III),Elongator complex protein 1,ELP 1,ELP1,ELP1,FD,FLJ12497,IKAP,IkappaB kinase complex associated protein,IkappaB kinase complex-associated protein,ikbkap,IKI 3,IKI3,IKK complex associated protein,IKK complex-associated protein,Inhibitor of kappa light polypeptide gene enhancer in B cells kinase complex associated protein,OTTHUMP00000063889,p150,TOT 1,TOT1
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.