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Validated All-in-One™ qPCR Primer for CHRNA1(NM_001039523.3) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq].
Gene References into function
- expression of extracellular domain of human muscle acetylcholine receptor alpha subunit in yeast Pichia pastoris
- DNA analysis of a father and son with dominant fast channel congenital myasthenic syndrome revealed an AChR alpha-subunit F256L missense mutation affecting channel gating
- A good correlation was found between the expression of PAX3/7-FKHR and AChR, while MyoD1 was more sensitive but less specific.
- the interaction between alpha AChR M1 and M2 domains plays a key role in channel gating
- growth factor-induced HMVEC migration, a key angiogenesis event, requires nAChR activation--an effect mediated in part by nAChR-dependent regulation of thioredoxin activity.
- Here we describe a mechanism controlling thymic transcription of a prototypic tissue-restricted human auto-antigen gene, CHRNA1
- No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
- study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal