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Validated All-in-One™ qPCR Primer for CHRNG(NM_005199.4) Search again
By 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.
Validated result:
Summary
For background information on the acetylcholine receptor (AChR), see CHRNA1 (MIM 100690). Two forms of AChR are found in mammalian skeletal muscle cells. The mature form is predominant in innervated adult muscle and the embryonic form is present in fetal and denervated muscle. Embryonic and mature AChR differ by the replacement of the gamma subunit in the pentameric glycoprotein complex by its isoform, the epsilon subunit (MIM 100725), which is specific to the mature AChR subtype. This switch is mediated by ARIA (acetylcholine receptor-inducing activity; MIM 142445).[supplied by OMIM].
Gene References into function
- A good correlation was found between the expression of PAX3/7-FKHR and AChR, while MyoD1 was more sensitive but less specific.
- CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate.
- Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome.
- constructed and characterized four AChR gamma extracellular domain variants
- This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation
- Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients.
