Description
Product Characteristics:
Epilepsy affects about 0.5 % of the world?s population and has a large genetic component. Epilepsy results from an electrical hyperexcitability in the central nervous system. Potassium channels are important regulators of electrical signaling, determining the firing properties and responsiveness of a variety of neurons. Benign familial neonatal convulsions (BFNC), an autosomal dominant epilepsy of infancy, has been shown to be caused by mutations in the KCNQ2 or the KCNQ3 potassium channel genes. KCNQ2 and KCNQ3 are voltage-gated potassium channel proteins with six putative transmembrane domains. Both proteins display a broad distribution within the brain, with expression patterns that largely overlap.
Subcellular location: Cell membrane
Synonyms: BFNC, BFNS1, EBN 1, EBN, EBN1, EIEE7, ENB 1, ENB1, HNSPC, KCNA 11, KCNA11, KCNQ 2, Kcnq2, KCNQ2_HUMAN, KQT like 2, KQT-like 2, KV7.2, KVEBN 1, KVEBN1, KvLQT 2, KvLQT2, Neuroblastoma specic potassium channel alpha subunit KvLQT2, Neuroblastoma specic potassium channel protein, Neuroblastoma specic potassium channel subunit alpha, Neuroblastoma specic potassium channel subunit alpha KvLQT2, Neuroblastoma-specic potassium channel subunit alpha KvLQT2, Potassium voltage gated channel KQT like protein 2, Potassium voltage gated channel KQT like subfamily member 2, Potassium voltage gated channel subfamily KQT member 2, Potassium voltage-gated channel subfamily KQT member 2, Voltage gated potassium channel subunit Kv7.2, Voltage-gated potassium channel subunit Kv7.2.
Target Information: 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]