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RNA tissue category: Group enriched (brain, caudate, hippocampus)
GENE INFORMATION
Gene name
KCNQ3 (HGNC Symbol)
Synonyms
EBN2, Kv7.3
Description
Potassium channel, voltage gated KQT-like subfamily Q, member 3 (HGNC Symbol)
Entrez gene summary
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]