Product Information
Molecular Weight56698DaObserved Band:55KD
Protein NameAcetylcholine receptor subunit beta
Human Gene Id1140
Human Swiss Prot NoP11230
Mouse Gene Id11443
Mouse Swiss Prot NoP09690
Rat Gene Id24261
Rat Swiss Prot NoP25109
SpecificityAChRβ1 Polyclonal Antibody detects endogenous levels of AChRβ1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCHRNB1; ACHRB; CHRNB; Acetylcholine receptor subunit beta
Functiondisease:Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. 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.,disease:Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]. ACHRDCMS is a post-synaptic congenital myasthenic syndrome. Mutations underlying AChR deficien
Subcellular Locationintegral component of plasma membrane,acetylcholine-gated channel complex,integral component of membrane,cell junction,synapse,postsynaptic membrane,
ExpressionEye,Muscle,,
Backgroundcholinergic receptor nicotinic beta 1 subunit(CHRNB1) Homo sapiens 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],