CHRNB2 Blocking Peptide (N-Term) Blocking Peptide

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

nAChRB2: 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 CHRNB2 are the cause of nocturnal frontal lobe epilepsy type 3 (ENFL3). ENFL3 is an autosomal dominant epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 2/CHRNB2 sub-subfamily.

Protein type: Receptor, misc.; Channel, cation; Membrane protein, multi-pass; Channel, ligand-gated; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q21.3

Cellular Component: external side of plasma membrane; 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; protein binding

Biological Process: associative learning; B cell activation; behavioral response to nicotine; calcium ion transport; central nervous system projection neuron axonogenesis; cognition; lateral geniculate nucleus development; learning; locomotory behavior; membrane depolarization; memory; negative regulation of action potential; neurological system process; neuromuscular synaptic transmission; optic nerve morphogenesis; positive regulation of B cell proliferation; positive regulation of dopamine secretion; regulation of circadian sleep/wake cycle, REM sleep; regulation of dendrite morphogenesis; regulation of dopamine metabolic process; regulation of dopamine secretion; regulation of synaptic transmission, dopaminergic; regulation of synaptogenesis; response to cocaine; response to ethanol; response to hypoxia; response to nicotine; sensory perception of pain; sensory perception of sound; signal transduction; smooth muscle contraction; social behavior; synaptic transmission involved in micturition; synaptic transmission, cholinergic; vestibulocochlear nerve development; visual learning; visual perception

Disease: Epilepsy, Nocturnal Frontal Lobe, 3