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Validated All-in-One™ qPCR Primer for CHRNE(NM_000080.2) Search again
Product ID:
HQP001673
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS
Gene Description:
cholinergic receptor nicotinic epsilon subunit
Target Gene Accession:
NM_000080.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
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:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The achetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq].
Gene References into function
- two binding sites differ by roughly 10-fold in the affinity of the shut receptor for ACh in the wild type, and that in the epsilonL221F mutation the lower affinity is increased so the sites become more similar.
- There was deletion in exon 7 of CHRNE. We cloned the entire CHRNE spanning 12 exons and 11 introns and expressed it in COS cells
- It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency.
- AChR epsilon-chain peptides are tested for their in vitro ability to activate peripheral blood mononuclear leukocytes of myasthenia gravis (MG) patients; MG patient cells are stimulated, whereas cells from nonmyasthenic subjects do not respond.
- Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. T
- a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation(novel valine to phenylalanine mutation ) in the epsilon subunit of the acetylcholine receptor.
- the intrinsically high Ca2+ permeability of human AChRs probably predisposes to development of the endplate myopathy when opening events of the AChR channel are prolonged by altered AChR-channel kinetics
- enhanced Ca2+ permeability of the mutant receptors overrides the protective effect of desensitization and, together with the prolonged opening events of the AChR channel, is important in slow channel syndromes
- Upon activation of AChR, GABP recruits the histone acetyl transferase (HAT) p300 on the AChR epsilon subunit promoter, whereas it rather recruits the histone deacetylase HDAC1 when the promoter is not activated.
- This is the first synonymous mutation in CHRNE known to generate a cryptic splice site, and mRNA quantification strongly suggests that it is the disease-causing mutation.
- The greater abundance of mRNA for AChR epsilon-subunit than for other subunits suggests that the AChR epsilon-subunit may play a distinctive role in autosensitization in MG-associated thymomas, particularly those of type A or AB.
- These results strongly support the hypothesis that epsilon1293insG mutations in a myasthenic syndrome derives from an ancient single founder event in the North African population.