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Protein Page:
nAChRA2 (human)

Overview
nAChRA2 After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in CHRNA2 are the cause of nocturnal frontal lobe epilepsy type 4 (ENFL4). ENFL4 is an autosomal dominant epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 2/CHRNA2 sub-subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, cation; Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Receptor, misc.
Chromosomal Location of Human Ortholog: 8p21
Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; plasma membrane
Molecular Function: acetylcholine binding; acetylcholine receptor activity; ligand-gated ion channel activity; nicotinic acetylcholine-activated cation-selective channel activity
Biological Process: neuromuscular synaptic transmission; response to nicotine; signal transduction; synaptic transmission, cholinergic
Disease: Epilepsy, Nocturnal Frontal Lobe, 4
Reference #:  Q15822 (UniProtKB)
Alt. Names/Synonyms: ACHA2; cholinergic receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal); CHRNA2; Neuronal acetylcholine receptor subunit alpha-2
Gene Symbols: CHRNA2
Molecular weight: 59,765 Da
Basal Isoelectric point: 5.69  Predict pI for various phosphorylation states
CST Pathways:  Alzheimer's Disease
Select Structure to View Below

nAChRA2

Protein Structure Not Found.
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