Recombinant Human Myosin-7 (MYH7) Protein (His)

Name: Recombinant Human Myosin-7 (MYH7) Protein (His)
Brand: Beta LifeScience
SKU: BLC-06796P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Myosin-7 (MYH7) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P12883
Target Symbol	MYH7
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His
Target Protein Sequence	MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRY
Expression Range	1-109aa
Protein Length	Partial
Mol. Weight	18.5 kDa
Research Area	Signal Transduction
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.
Subcellular Location	Cytoplasm, myofibril. Cytoplasm, myofibril, sarcomere.
Protein Families	TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
Database References	HGNC: 7577 OMIM: 160500 KEGG: hsa:4625 STRING: 9606.ENSP00000347507 UniGene: Hs.719946
Associated Diseases	Cardiomyopathy, familial hypertrophic 1 (CMH1); Myopathy, myosin storage, autosomal dominant (MSMA); Scapuloperoneal myopathy MYH7-related (SPMM); Cardiomyopathy, dilated 1S (CMD1S); Myopathy, distal, 1 (MPD1); Myopathy, myosin storage, autosomal recessive (MSMB); Left ventricular non-compaction 5 (LVNC5)
Tissue Specificity	Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).

Gene Functions References

Of the 52 hypertrophic cardiomyopathy patients 12 (23.1%) had MYH7 variants. PMID: 29386531
A family that demonstrates the diverse HCM phenotypes associated with a single MYH7 mutation. PMID: 29343710
Mutation in MYH7 was identified as Restrictive Cardiomyopathy - causing mutation. PMID: 27339502
MYH7-V878A and CACNA1C-A1594V mutations were detected in a Chinese Family with Hypertrophic Cardiomyopathy. Among those with only the MYH7-V878A mutation, subject III-7 showed abnormal ECG recordings, asymmetric septal hypertrophy, and myocardial fibrosis, and subjects II-13 and III-15 showed some abnormal repolarization, borderline LV wall thickness, and normal cardiac magnetic resonance (CMR) findings. PMID: 28866666
Asn391Thr mutation of MYH7 is a malignant mutation for hypertrophic cardiomyopathy and that mutation carriers should get effective treatment to prevent sudden death. PMID: 29743414
Double MYH7 CTTNA3 heterozygotes showed a variable clinical expression of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. One carrier of double mutations in CTTNA3 and MYH7 genes did not fulfill the current diagnostic criteria for cardiomyopathy. PMID: 28699631
Data provide evidence that MYH7 mutations contributed to 24.4% MYBPC3 mutations of hypertrophic cardiomyopathy (HCM) cases, that MYBPC3 constitute the preeminent cause of HCM and that both mutations are phenotypically indistinguishable. PMID: 29121657
Digenic inheritance of two novel variants in TNNT2 and MYH7 is associated with a severe form of dilated cardiomyopathy. PMID: 28642161
MYH7-V878A is a hot spot among ethnic Han Chinese with a high penetrance. PMID: 28777849
Unlike previous Hypertrophic cardiomyopathy (HCM)mutations studied at the molecular level using human beta-cardiac myosin, early-onset HCM mutations lead to significantly larger changes in the fundamental biomechanical parameters and show clear hyper-contractility PMID: 27974200
Gly716Arg allele carriers have an extremely poor prognosis, and the females seem to have a longer life expectancy than males. To the best of our knowledge, this study is the largest cohort study of the Gly716Arg allele. PMID: 27161882
We investigated a male with familial familial hypertrophic cardiomyopathy with restrictive physiology and we identified a novel missense mutation p.Arg719Leu of beta-myosin heavy chain (MYH7) gene PMID: 27910300
ur results suggest that the basis for the pathogenic effect of the R1845W and H1901L mutations of the MYH7 are primarily structural rather than functional. Further analyses are needed to identify the primary trigger for the histological changes seen in muscle biopsies of patients with L1793P and E1883K mutations. PMID: 28125727
Two novel heterozygous proline substitutions located in exon 31 of MYH7 within its rod domain:c.4309G>C (p.Ala1437Pro) and c.4301G>C (p.Arg1434Pro) is causing skeletal myopathies. PMID: 27519903
MYH7 gene mutation is associated with Early-Onset Hypertrophic Cardiomyopathy. PMID: 27483260
family members who carried both the MYH7-A719H and MYOZ2-L169G mutations had more severe symptoms of hypertrophic cardiomyopathy, including sudden cardiac death, than those with only the MYH7 mutation PMID: 28296734
Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations. PMID: 25825456
A novel heterozygous mutation (MYH7, p.Asn885Thr), and a variant of uncertain significance (TNNT2, p.Arg296His) were identified in 2 patients with familial hypertrophic cardiomyopathy. PMID: 27082122
Multidimensional structure-function relationships in human beta-cardiac myosin from population-scale genetic variation. PMID: 27247418
BNP, but not mutations in MYH7 may have a role in sudden cardiac death in children with hypertrophic cardiomyopathy PMID: 26773184
novel mutation in the MYH7 gene in a family with distal myopathy and core-like features PMID: 27005958
We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins PMID: 25863306
analysis of the interaction between residues Glu-497 in the relay domain and Arg-712 in the converter domain of human beta-cardiac myosin PMID: 26446785
A beta-myosin molecule's ADP release rate depends exponentially on the applied load, in qualitative agreement with cardiac muscle, which contracts with a velocity inversely proportional to external load. PMID: 26239258
Results in this family show that mutation in MYH7 can lead to restrictive or mixed cardiomyopathy. PMID: 25422285
MYH7 mutation is associated with Inherited Cardiomyopathy. PMID: 25937619
no significant difference in the prevalence of the studied mutations between the patients with Hypertrophic cardiomyopathy and the healthy controls (p>0.05). PMID: 24566549
This study demonstrated that two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. PMID: 25695922
The molecular characterization of the four myosin skip residues also provides a guide to modeling the effects of rod mutations causing cardiac and skeletal myopathies. PMID: 26150528
Mutations in the converter region of beta myosin heavy chain are associated with adverse prognosis of patients with cardiomyopathies, although there are differences between mutations. PMID: 25935763
MYH7-R1053Q was found to be a common mutation in Finnish patients with hypertrophic cardiomyopathy. PMID: 24888384
3 family members with a dominant mutation in distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] with a complex phenotype of Laing Distal Myopathy like phenotype, left ventricular noncompaction cardiomyopathy and Fiber Type Disproportion at muscle biopsy PMID: 25576864
study shows faster cross-bridge kinetics and increase in energetic costs of tension generation of sarcomeres from hypertrophic cardiomyopathy (HCM) patients with the R403Q MYH7 mutation compared to mutation-negative patients; increased tension cost might contribute to HCM disease in patients carrying the R403Q mutation PMID: 24928957
A novel genetic variant in the coding regions of MYH7 gene was identified in a Chinese Left ventricular noncompaction-family. The results support the previous evidence that MYH7 is a pathogenic gene for Left ventricular noncompaction. PMID: 25550050
the association between Ebstein anomaly, Left ventricular noncompaction and mutations in MYH7 (Review) PMID: 23794396
MYH7 defects are a major cause of genetic cardiomyopathies, including LVNC in adults and children. PMID: 25547560
Report sex-related differences in myosin heavy chain beta expression in atria from failing and nonfailing hearts. PMID: 24878771
Case Report: familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation. PMID: 25444217
Data indicate nine novel mutations in the genes encoding myosin VI, myosin VIIA and myosin XVA in hearing-impaired individuals from Israeli Jewish and Palestinian Arab families. PMID: 24105371
This report widens the clinical and pathological phenotypes, and the genetics of MYH7 mutations leading to skeletal muscle diseases. PMID: 24664454
A novel p.G407C mutation in the beta-myosin heavy chain gene (MYH7) was identified to be responsible for familial hypertrophic cardiomyopathy in a family. PMID: 24963656
Left ventricular non-compaction was found to be associated with a novel MYH7 mutation. PMID: 24726209
We describe MYH7 as an additional causative gene for AD-CCD. PMID: 24828896
Transfecting human beta-MHC V606M into the mouse cardiac alpha-MHC gene caused hypertrophic cardiomyopathy without left ventricular hypertrophy, disarray of myofibers, and interstitial fibrosis. Cyclosporine or Arg453Cys or Arg719Trp worsened the phenotype. PMID: 24829265
MYH7 gene mutation segregates with disease in a family with autosomal dominant transmission of congenital heart defects including Ebstein anomaly PMID: 23956225
8 known polymorphic MYH7 variants and 2 intronic variations but no missense or pathological mutations were found in 58 Venezuela hypertrophic cardiomyopathy cases. PMID: 24758099
The first detailed biochemical kinetic analysis of the motor domain of the human beta-cardiac myosin carrying the R453C mutation, is reported. PMID: 24344137
MYH7 mutations reduce force generating capacity of sarcomeres at maximal and submaximal [Ca(2)]. These hypocontractile sarcomeres may represent the primary abnormality in patients with MYH7 mutations. PMID: 23674513
Perfomed proteomic analysis on a transgenic mouse model of severe cardiac hypertrophy; compared data to dataset of heart failure found MYH7, IGFBP7, ANXA2, and DESM to be biomarker candidates for heart failure. PMID: 23713052
observations expand the clinical spectrum of laing distal myopathy with the MYH7 mutation PMID: 23707328

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Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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