KCNH2 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 7q36.1

Cellular Component: voltage-gated potassium channel complex; cell surface; cytoplasm; plasma membrane; nuclear envelope

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

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

Disease: Long Qt Syndrome 2; Short Qt Syndrome 1