{"symbol":"KCNQ3","synonyms":["KV7.3","EBN2","BFNC2"],"name":"potassium channel, voltage gated KQT-like subfamily Q, member 3","description":"This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]","ncbiEntrezGeneId":3786,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3786","proteins":[{"symbol":"KCNQ3_HUMAN","href":"/api/1.0/protein/KCNQ3_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}