Gene Symbol | KCNE1 |
Entrez Gene ID | 3753 |
Full Name | potassium voltage-gated channel subfamily E regulatory subunit 1 |
Synonyms | ISK,JLNS,JLNS2,LQT2/5,LQT5,MinK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Jervell and Lange-Nielsen syndrome 2, 612347 (3); Long QT syndrome 5, 613695 (3) |