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Validated All-in-One™ qPCR Primer for MYBPC3(NM_000256.3) Search again
Product ID:
HQP011595
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C
Gene Description:
myosin binding protein C3
Target Gene Accession:
NM_000256.3(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
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq].
Gene References into function
- Left ventricular hypertrophy can be a late manifestation of hypertrophic cardiomyopathy due to cardiac myosin-binding protein C mutations.
- Results suggest that the cardiac myosin-binding protein C gene (MYBPC3) is the predominant gene for hypertrophic cardiomyopathy in eastern Finland.
- Haplotype analysis suggested that the two most common variants (MYBPC3-Gln1061X and TPM1-Asp175Asn) were founder mutations.
- NMR assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C
- MYBPC3-HCM virtually mimicked the phenotype of those with mutations in the beta-myosin heavy chain. Patients with multiple mutations had the most severe phenotype.
- Our results point out that GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in the patients with hypertrophic cardiomyopathy.
- Truncated cMyBP-C resulting from human MYBPC3 mutations are rapidly and quantitatively degraded by the ubiquitin-proteasome system, which in turn may competitively inhibit breakdown of other proteasome substrates.
- role of MYBPC3 mutations in hypertrophic cardiomyopathy; three new mutations in three families (V771M, V342D, and A627V)were found; findings suggest a dosage effect for mutations at the MYPBC3 gene
- mutation in the TNNT2 gene with aggravating mutation in the MYBPC3 gene causing restrictive cardiomyopathy in a child
- lution structure of one part of the N-terminal binding site, the third immunoglobulin domain of the cardiac isoform of human MyBP-C (cC2) together with a model of its interaction with myosin
- The compromised contractile function of the failing heart might be in part attributable to reduced cMyBP-C phosphorylation levels.
- identified a novel homozygous mutation, c.3330 + 2T > G, in the splice-donor site of MYBPC3 intron 30, resulting in skipping of the 140-bp exon 30, which led to a frame shift and premature stop codon in exon 31; phenotype found in Amish communities
- Screening of the exons in hypertrophic cardiomyopathy revealed two variations - one novel frame shift mutation in exon 19 at the nucleotide position 11577-11578 and one novel single nucleotide polymorphism (SNP) in codon 1093 of exon 31.
- Four mutations in the MYBPC3 gene are found to be associated with hypertrophic cardiomyopathy; all four result in premature termination codons, which suggests that haploinsufficiency is a pathogenic mechanism of this type of mutation.
- The structure of the immunoglobulin-like C1 domain of MyBP-C was solved by X-ray crystallography to a resolution of 1.55 A.
- Homozygous mutations in the MYBPC3 gene have been identified as the cause of severe infantile HCM among the Amish population.
- Diffraction data from the C1 domain of cMyBP-C were extended to 1.30 A resolution, where the of the diffraction data crosses 2.0, using intense synchrotron radiation.
- MyBP-C is a highly phosphorylated protein in vivo; diminished MyBP-C phosphorylation is a feature of both end-stage heart failure and hypertrophic cardiomyopathy.
- PKA phosphorylation of cMyBP-C accelerates crossbridge kinetics and loss of this regulation leads to cardiac dysfunction.
- Mutations in MYBPC3 should be considered a frequent cause of hypertrophic cardiomyopathy in Poland.
- the missense MYBPC3 mutation E334K destabilizes its protein and may contribute to cardiac dysfunction in hypertrophic cardiomyopathy through impairment of the ubiquitin-proteasome system.
- MYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age
- A deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations.