GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 08 Dec 2016.
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Dys, ELP1, IKBKAP, IKAP
The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008] (from
Dragatsis et al., Memphis, United States. In Plos One, 2010
IKAP is essential for expression of specific genes involved in cardiac morphogenesis, and cardiac failure is the likely cause of abnormal vascular development and embryonic lethality; deletion of exon 20 abolishes gene function