Gene Symbol | KCNQ3 |
Entrez Gene ID | 3786 |
Full Name | potassium voltage-gated channel subfamily Q member 3 |
Synonyms | BFNC2,EBN2,KV7.3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Seizures, benign neonatal, type 2, 121201 (3) |