Official Full Name
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKAP was initially identified as a scaffold protein of the IkappaB kinase complex that could bind to IKKa, IKK?, NF-kappaB, and the NF-kappaB-inducing kinase (NIK), although later evidence has cast doubt on this. More recent reports show that mutations in IKAP such as a frameshift leading to a truncated protein or a missense mutation that leads to defective phosphorylation are responsible for the autosomal recessive genetic disease familial dysautonomia (FD). Reports indicating that it forms part of the RNA polymerase II transcription elongation complex suggest that this disease may be due to compromised transcription elongation.
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein; IKBKAP; FD; DYS; ELP1; IKAP; IKI3; TOT1; FLJ12497; DKFZp781H1425; elongator complex protein 1; p150; OTTHUMP00000021869; IKK complex-associated protein; ikappaB kinase complex-associated protein