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Validated All-in-One™ qPCR Primer for MYH7(NM_000257.3) Search again
Product ID:
HQP102696
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CMD1S, CMH1, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM
Gene Description:
myosin heavy chain 7
Target Gene Accession:
NM_000257.3(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
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq].
Gene References into function
- Mutations in exon 30 and exon 37 linked to familial hypertrophic cardiomyopathy in 4 families
- three novel mutations in exon 21
- This study identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families.
- Only one mutation (Arg719Trp) in the beta-myosin heavy chain gene (MYH7) was found in one family, and no disease-causing mutations were found in the genes encoding alpha-actin, cardiac troponin I, T, C, or myosin essential and regulatory light chains.
- Heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy.
- HCM patients with MYH7 were diagnosed at a younger age and had more hypertrophy, but they had no greater frequency of sudden death among first-degree relatives.
- Mutations in the beta-myosin heavy chain gene seem to be relatively uncommon in Finnish dilated cardiomyopathy patients.
- The arginine 1845 tryptophan mutation found in 2 cases of myosin storage myopathy indicates a critical role for myosin residue arginine 1845.
- Study on the correlation of mutations in MYH7 gene and hypertrophic cardiomyopathy.
- Beta-myosin heavy chain gene mutation play important role in etiology of HCMP in patients in Russia.
- beta-cardiac myosin heavy chain may have a role in endocardial fibroelastosis and heart failure [review]
- Results describe the crystal structures of the 126 N-terminal residues of subfragment 2 from human cardiac beta-myosin II, of both WT and the disease-associated E924K mutant.
- Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7.
- These data demonstrate that Pur proteins collaborate with Sp3 to regulate a transcriptional program that enables muscle cells to remodel their phenotype.
- The MYH7 gene was found responsible for familial hypertrophic cardiomyopathy in the studied family, together with other genes, modifying ones...
- study suggests that the clinical spectrum in MYH7 gene mutation patients is quite broad and includes asymptomatic hyperCKemia, proximal muscle weakness with muscle hypertrophy and scapulo-peroneal weakness
- The missense mutation of MYH7 may lead to Myosin storage myopathy with cardiomyopathy.
- Left ventricular end systolic diameter increased and ejection fraction reduction was noted in the majority of R403W(MYH7)mutations in progression to hypertrophic cardiomyopathy.
- The p.R870H mutation was identified as the etiology of familial hypertrophic cardiomyopathy in an Indian family. The phenotype varied according to gender and other genetic variables.
- study identified a p.Met531Arg mutation in betaMHC in a 13-year-old girl with isolated left ventricular non-compaction; results in a mouse model indicate that the bMHC p.Met531Arg mutation contributes to malignant cardiomyopathy
- MYH7 mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.
- identification of de novo missense mutation, c.842G>C, in the gene MYH7 in 24 member of the family suffering from noncompaction of the ventricular myocardium
- this novel MYH7 mutation is clinically significant in this family.
- Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7.
- Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies
- Bioinformatics assessment of MYH7 mutations reveals myosin's high sensitivity to mutations. (Review)
- The results show that the R403Q mutation leads to an apparent gain of protein function but a greater energetic cost of tension generation.