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.
Aliases： ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS
Entrez GeneID： 1144
Swissprot ： Q07001
WB Predicted band size： 58.8kDa
Host/Isotype ： Mouse IgG1
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human CHRND (AA: extra 22-245) expressed in E. Coli.
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