Catalog No.
YHG91901
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Ala328
Predicted molecular weight
37.13 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q14896
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
MYBPC3, Myosin-binding protein C, cardiac-type, C-protein, cardiac muscle isoform, Cardiac MyBP-C
Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy., PMID:40501845
Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants., PMID:40496056
Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy., PMID:40442228
Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency., PMID:40426840
Mavacamten Inhibits the Effect of the N-Terminal Fragment of Cardiac Myosin-Binding Protein C with the L352P Mutation on the Actin-Myosin Interaction at Low Calcium Concentrations., PMID:40367081
Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathy., PMID:40250125
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum., PMID:40195560
Metabolic Coordination Structures Contribute to Diabetic Myocardial Dysfunction., PMID:40190276
Myosin binding protein-C modulates loaded sarcomere shortening in rodent permeabilized cardiac myocytes., PMID:40126337
Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up., PMID:40115818
Myocardial dysfunction caused by MyBPC3 P459fs mutation in hypertrophic cardiomyopathy: evidence from multi-omics approaches and super-resolution imaging., PMID:40083819
AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models., PMID:40038304
Recessive genetic contribution to congenital heart disease in 5,424 probands., PMID:40030011
Hypertrophic Cardiomyopathy: Genes and Mechanisms., PMID:40018920
Cardiac MRI Strain as an Early Indicator of Myocardial Dysfunction in Hypertrophic Cardiomyopathy., PMID:40003877
Neural-symbolic hybrid model for myosin complex in cardiac ventriculum decodes structural bases for inheritable heart disease from its genetic encoding., PMID:39892686
Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights from an HCM Center of Excellence., PMID:39890042
Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy., PMID:39851041
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system., PMID:39838281
[Hypertrophic cardiomyopathy with left ventricular excessive trabeculation resulting from MYBPC3 gene mutation: a case report]., PMID:39806904
The impact of common and rare genetic variants on bradyarrhythmia development., PMID:39747593
Single Cell Transcriptomic Profiling of MYBPC3-Associated Hypertrophic Cardiomyopathy Across Species Reveals Conservation of Biological Process But Not Gene Expression., PMID:39719426
Endpoint Selection in Randomized Clinical Trials for Hypertrophic Cardiomyopathy., PMID:39708028
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers., PMID:39689185
Generation of Isogenic iPSC Lines for Studying the Effect of the p.N515del (c.1543_1545delAAC) Variant on MYBPC3 Function and Hypertrophic Cardiomyopathy Pathogenesis., PMID:39684611
Obstructive hypertrophic cardiomyopathy: from genetic insights to a multimodal therapeutic approach with mavacamten, aficamten, and beyond., PMID:39645546
Evaluation of galectin-3 and titin in cats with a sarcomeric gene mutation associated with echocardiography., PMID:39619937
Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal)., PMID:39605252
MYBPC3 D389V Variant Induces Hypercontractility in Cardiac Organoids., PMID:39594661
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort., PMID:39581692
Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin-Binding Protein C)., PMID:39470061
The D75N and P161S Mutations in the C0-C2 Fragment of cMyBP-C Associated with Hypertrophic Cardiomyopathy Disturb the Thin Filament Activation, Nucleotide Exchange in Myosin, and Actin-Myosin Interaction., PMID:39456977
Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy., PMID:39447317
Searching for genetic determinants for left ventricular non-compaction., PMID:39429584
Hypertrophic cardiomyopathy-associated mutations drive stromal activation via EGFR-mediated paracrine signaling., PMID:39413182
Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study., PMID:39387793
CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation., PMID:39388496
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort., PMID:39355877
BMP10 reflects pre-capillary pulmonary hemodynamics: association of biomarkers and hemodynamic parameters in pulmonary hypertension., PMID:39297942
Chronic Activation of Tubulin Tyrosination Improves Heart Function., PMID:39279670
Post-COVID Myocarditis in Patients with Primary Cardiomyopathies: Diagnosis, Clinical Course and Outcomes., PMID:39202422
Genetic Basis of Hypertrophic Cardiomyopathy in Cats., PMID:39194734
Response by Shridhar et al to Letter Regarding Article, "MDM2 Regulation of HIF Signaling Causes Microvascular Dysfunction in Hypertrophic Cardiomyopathy"., PMID:39186528
Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases., PMID:39165751
Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study., PMID:39160446
Feline hypertrophic cardiomyopathy: Does the microRNA-mRNA regulatory network contribute to heart sarcomeric protein remodelling?, PMID:39138588
MYH7 mutation is associated with mitral valve leaflet elongation in patients with obstructive hypertrophic cardiomyopathy., PMID:39130421
Metabolic remodeling and calcium handling abnormality in induced pluripotent stem cell-derived cardiomyocytes in dilated phase of hypertrophic cardiomyopathy with MYBPC3 frameshift mutation., PMID:38965264
For research use only. Not for human or drug use.
