Summary
Performance
Immunogen
Application
Background
This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009],disease:Genetic variations in CHRNA3 may be associated with susceptibility to lung cancer type 2 (LNCR2) [MIM:612052].,disease:Genetic variations in CHRNA3 may be associated with susceptibility to peripheral arterial occlusive disease type 2 (PAOD2) [MIM:612052]. PAOD results from atherosclerosis of large and medium peripheral arteries, as well as the aorta. Many risk factors contribute to PAOD, including smoking, diabetes, hypertension, and hyperlipidemia. PAOD often coexists with coronary artery disease and cerebrovascular disease.,function: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.,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-3 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly.,
Research Area
