KCNQ2 Antibody – Mouse Monoclonal

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]

Kv7.2: Probably important in the regulation of neuronal excitability. Associates with KCNQ3 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. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors. Defects in KCNQ2 are the cause of benign familial neonatal seizures type 1 (BFNS1). A disorder 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. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet- discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia. Defects in KCNQ2 are the cause of epileptic encephalopathy early infantile type 7 (EIEE7). EIEE7 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Channel, potassium; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 20q13.3

Cellular Component: voltage-gated potassium channel complex; plasma membrane; integral to membrane

Molecular Function: voltage-gated potassium channel activity; potassium channel activity; delayed rectifier potassium channel activity; ankyrin binding

Biological Process: nervous system development; axon guidance; synaptic transmission; transmission of nerve impulse; potassium ion transport

Disease: Seizures, Benign Familial Neonatal, 1; Epileptic Encephalopathy, Early Infantile, 7