KCNE1, Official Symbol KCNE1provided by HGNC Official Full Name potassium voltage-gated channel subfamily E regulatory subunit 1provided by HGNC Primary source HGNC:HGNC:6240 See related Ensembl:ENSG00000180509 MIM:176261; AllianceGenome:HGNC:6240 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 ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5 Summary The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 1.7), kidney (RPKM 1.5) and 7 other tissues See more Orthologs mouse all