The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene.
Immunogen Information
Immunogen
Recombinant fusion protein of human CHRND
Gene ID
1144
Swissprot
Q07001
Synonyms
CHRNDACHRDCMS2ACMS3ACMS3BCMS3CFCCMSSCCMS
Calculated MW
7kDa/27kDa/31kDa
Observed MW
32kDa
Applications
Reactivity
Human,Mouse
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1mg/mL
Storage Buffer
PBS with 0.01% thiomersal,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.