The KCNE1 gene homepage
| General information |
| Gene symbol |
KCNE1 |
| Gene name |
potassium voltage-gated channel, Isk-related family, member 1 |
| Chromosome |
21 |
| Chromosomal band |
q22.1-q22.2 |
| Imprinted |
- |
| Genomic reference |
NG_009091.1 |
| Transcript reference |
NM_000219.4 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
117 |
| Unique public DNA variants reported |
63 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5 |
| Date created |
April 20, 2013 |
Active transcripts
| Copyright & disclaimer |
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