Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) ELISA Kit for Human

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]

Kv11.1: the ether-a-go-go related gene is a pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel is associated with cardiac arrhythmias and rhythmic excitability of the pituitary. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with Kv11.2 and Kv11.3. Interacts with ALG10B. Heteromultimer with KCNE1 and KCNE2. Defects in Kv11.1 are the cause of long QT syndrome type 2 (LQT2), a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. Deafness is often associated with LQT2. Defects in Kv11.1 are the cause of short QT syndrome type 1 (SQT1), a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death. Four isoforms of the human protein are produced by alternative splicing. Isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1.

Protein type: Channel, potassium; Membrane protein, integral; Membrane protein, multi-pass; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 7q36.1

Cellular Component: cell surface; perinuclear region of cytoplasm; plasma membrane; voltage-gated potassium channel complex

Molecular Function: delayed rectifier potassium channel activity; identical protein binding; inward rectifier potassium channel activity; phosphorelay sensor kinase activity; protein binding; protein homodimerization activity; ubiquitin protein ligase binding; voltage-gated potassium channel activity

Biological Process: cardiac muscle contraction; potassium ion homeostasis; regulation of membrane potential; regulation of the rate of heart contraction by hormone; two-component signal transduction system (phosphorelay)

Disease: Long Qt Syndrome 2; Short Qt Syndrome 1