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GENERAL INFORMATION
Gene name
KCNQ2
Gene description
Potassium channel, voltage gated KQT-like subfamily Q, member 2
Protein class
Disease related genes FDA approved drug targets Plasma proteins Predicted intracellular proteins Predicted membrane proteins Transporters Voltage-gated ion channels
Potassium channel, voltage gated KQT-like subfamily Q, member 2 (HGNC Symbol)
Entrez gene summary
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]