Gene Symbol | KCNH2 |
Entrez Gene ID | 3757 |
Full Name | potassium voltage-gated channel subfamily H member 2 |
Synonyms | ERG-1,ERG1,H-ERG,HERG,HERG1,Kv11.1,LQT2,SQT1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Long QT syndrome 2, 613688 (3); {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3); Short QT syndrome 1, 609620 (3) |