Gene Symbol | KCNQ2 |
Entrez Gene ID | 3785 |
Full Name | potassium voltage-gated channel subfamily Q member 2 |
Synonyms | BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Seizures, benign neonatal, 1, 121200 (3); Myokymia, 121200 (3); Epileptic encephalopathy, early infantile, 7, 613720 (3) |