CHRNB1 Antibody – Rabbit

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. [provided by RefSeq, Jul 2008]

nAChRB1: 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 CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS). SCCMS is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD). CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily.

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

Chromosomal Location of Human Ortholog: 17p13.1

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

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

Biological Process: skeletal muscle contraction; regulation of membrane potential; muscle contraction; neuromuscular synaptic transmission; behavioral response to nicotine; muscle fiber development; postsynaptic membrane organization; signal transduction; transmembrane transport; cation transport; synaptic transmission, cholinergic; neurological system process

Disease: Myasthenic Syndrome, Congenital, 2c, Associated With Acetylcholine Receptor Deficiency; Myasthenic Syndrome, Congenital, 2a, Slow-channel