Synonyms:BFNC, DEE7, EBN, EBN1, ENB1, ENTREZ:3785, HGNC:6296, HNSPC, KCNA11, KCNQ2, KV7.2, MIM:602235, NM_001382235, NM_004518, NM_172106, NM_172107, NM_172108, NM_172109, NP_001369164, NP_004509, NP_742104, NP_742105, NP_742106, NP_742107, XM_011528811, XM_017027841, XM_017027842, XM_017027843, XM_017027844, XM_017027845, XP_011527113, XP_016883330, XP_016883331, XP_016883332, XP_016883333, XP_016883334, potassium voltage-gated channel subfamily Q member 2
Id:ENSG00000281151
Description:potassium voltage-gated channel subfamily Q member 2 [Source:HGNC Symbol;Acc:HGNC:6296]
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]
