CHRNB2 Antibody – Goat Polyclonal

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

Chromosomal Location of Human Ortholog: 1q21.3

Cellular Component: nicotinic acetylcholine-gated receptor-channel complex; postsynaptic membrane; integral to membrane; plasma membrane; cell junction; external side of plasma membrane

Molecular Function: protein heterodimerization activity; acetylcholine receptor activity; drug binding; nicotinic acetylcholine-activated cation-selective channel activity; acetylcholine binding; ligand-gated ion channel activity

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

Disease: Epilepsy, Nocturnal Frontal Lobe, 3