| 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 |
|
| 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) |








































User Manual