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 one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, 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 2 (SFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Two variants encoding distinct isoforms have been found. [provided by RefSeq, Mar 2011]
Function:
Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs.
Subcellular Location:
Membrane.
Tissue Specificity:
Predominantly expressed in brain.
DISEASE:
Defects in KCNQ3 are the cause of benign neonatal epilepsy type 2 (EBN2) [MIM:121201]. Benign neonatal epilepsy is characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset.
Similarity:
Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily.
SWISS:
O43525
Gene ID:
3786
Database links:
Entrez Gene: 3786 Human
Entrez Gene: 110862 Mouse
Entrez Gene: 29682 Rat
Omim: 602232 Human
SwissProt: O43525 Human
SwissProt: Q8K3F6 Mouse
SwissProt: O88944 Rat
Unigene: 374023 Human
Unigene: 255585 Mouse
Unigene: 205060 Rat
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