Acetylcholine receptor subunit beta is aprotein that in humans is encoded by theCHRNB1gene.[5]
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome.[5]
Beeson D, Jeremiah S, West LF, et al. (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17".Ann. Hum. Genet.54 (Pt 3):199–208.doi:10.1111/j.1469-1809.1990.tb00378.x.PMID2221824.S2CID151624.
Gomez CM, Maselli R, Gammack J, et al. (1996). "A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome".Ann. Neurol.39 (6):712–23.doi:10.1002/ana.410390607.PMID8651643.S2CID12269544.
Cousin P, Billotte J, Chaubert P, Shaw P (2000). "Physical map of 17p13 and the genes adjacent to p53".Genomics.63 (1):60–8.doi:10.1006/geno.1999.6062.PMID10662545.
Lou XY, Ma JZ, Payne TJ, et al. (2007). "Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence".Hum. Genet.120 (3):381–9.doi:10.1007/s00439-006-0229-7.PMID16874522.S2CID3162300.
