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. [provided by RefSeq, Jul 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CHRND-20-RE | 20 (40 μL) | 200 μL |  |
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| CHRND-20-OR | 20 (40 μL) | 200 μL |  |
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| CHRND-20-GO | 20 (40 μL) | 200 μL |  |
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| CHRND-20-GR | 20 (40 μL) | 200 μL |  |
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| CHRND-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2015]
Gene Symbol : CHRND
Gene Name : Cholinergic receptor nicotinic delta subunit
Chromosome : CHR 2: 232,526,159-232,537,906
Locus : 2q37.1
Alt. Genes : ATP6AP2
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