ELP1, Official Symbol ELP1provided by HGNC Official Full Name elongator acetyltransferase complex subunit 1provided by HGNC Primary source HGNC:HGNC:5959 See related Ensembl:ENSG00000070061 MIM:603722; AllianceGenome:HGNC:5959 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FD; DYS; IKAP; IKI3; TOT1; IKBKAP Summary 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. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in adrenal (RPKM 22.4), ovary (RPKM 14.7) and 25 other tissues See more Orthologs mouse all