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Myosin Binding Protein C, Cardiac (MYBPC3)

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MYBPC-3; FHC; CMH4; MYBP-C; C-protein, cardiac muscle isoform

Myosin Binding Protein C, Cardiac (MYBPC3)
CCC D016
HGNC 7551
MGI 102844
PubMed 23140321
RGD 1305950
UniProt Q14896
Wiki MYBPC3
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.
MYBPC gene is linked to CMH4 and demonstrated a splice donor mutationin 1 family with familial hypertrophic cardiomyopathy and a duplication mutation in a second. Both mutations were predicted to disrupt the high-affinity, C-terminal myosin-binding domain of cardiac MyBP-C. Again, findings demonstrated that as in the case of the 3 forms that had been defined in molecular terms previously, familial hypertrophic cardiomyopathy is a disease of the sarcomere.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD016Hu01 Recombinant Myosin Binding Protein C, Cardiac (MYBPC3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD016Hu01 Polyclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) WB; IHC; ICC; IP.
MAD016Hu21 Monoclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) WB
MAD016Hu24 Monoclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) WB
MAD016Hu22 Monoclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) WB
MAD016Hu23 Monoclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) WB
Assay Kits SED016Hu ELISA Kit for Myosin Binding Protein C, Cardiac (MYBPC3) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myosin Binding Protein C, Cardiac (MYBPC3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myosin Binding Protein C, Cardiac (MYBPC3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myosin Binding Protein C, Cardiac (MYBPC3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myosin Binding Protein C, Cardiac (MYBPC3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myosin Binding Protein C, Cardiac (MYBPC3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myosin Binding Protein C, Cardiac (MYBPC3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myosin Binding Protein C, Cardiac (MYBPC3) ELISA Kit Customized Service Offer
  1. "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."Circ. Res. 80:427-434(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy."N. Engl. J. Med. 338:1248-1257(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy."Nat. Genet. 11:438-440(1995) [PubMed] [Europe PMC] [Abstract]
  7. "Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy."J. Mol. Biol. 329:745-761(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C)."J. Biomol. NMR 29:431-432(2004) [PubMed] [Europe PMC] [Abstract]
  9. "An investigation into the protonation states of the C1 domain of cardiac myosin-binding protein C."Acta Crystallogr. D 64:658-664(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy."J. Mol. Biol. 378:387-397(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1."J. Mol. Biol. 384:615-630(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene."J. Med. Genet. 35:205-210(1998) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy."J. Med. Genet. 35:253-254(1998) [PubMed] [Europe PMC] [Abstract]
  14. "The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events."Am. J. Hum. Genet. 65:1308-1320(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations."J. Am. Coll. Cardiol. 38:315-321(2001) [PubMed] [Europe PMC] [Abstract]
  16. "Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy."J. Am. Coll. Cardiol. 38:322-330(2001) [PubMed] [Europe PMC] [Abstract]
  17. "Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."Biochem. Biophys. Res. Commun. 298:116-120(2002) [PubMed] [Europe PMC] [Abstract]
  18. "Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]
  19. "Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."Biochem. Biophys. Res. Commun. 309:391-398(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
  21. ErratumCirculation 109:3258-3258(2004)
  22. "Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]
  23. "The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands."Eur. Heart J. 24:1848-1853(2003) [PubMed] [Europe PMC] [Abstract]
  24. "A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients."J. Am. Coll. Cardiol. 41:781-786(2003) [PubMed] [Europe PMC] [Abstract]
  25. "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]
  26. "Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency."Eur. J. Hum. Genet. 12:673-677(2004) [PubMed] [Europe PMC] [Abstract]
  27. "Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy."J. Am. Coll. Cardiol. 44:1903-1910(2004) [PubMed] [Europe PMC] [Abstract]
  28. "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy." J. Am. Coll. Cardiol. 44:2192-2201(2004) [PubMed] [Europe PMC] [Abstract]
  29. "Mutations profile in Chinese patients with hypertrophic cardiomyopathy."Clin. Chim. Acta 351:209-216(2005) [PubMed] [Europe PMC] [Abstract]
  30. "Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]
  31. "Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene."BMC Med. Genet. 9:95-95(2008) [PubMed] [Europe PMC] [Abstract]
  32. "Shared genetic causes of cardiac hypertrophy in children and adults."N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]
  33. "Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy."Circ. Cardiovasc. Genet. 3:155-161(2010) [PubMed] [Europe PMC] [Abstract]
  34. "Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype."Circ. Cardiovasc. Genet. 4:367-374(2011) [PubMed] [Europe PMC] [Abstract]
  35. "Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy."PLoS ONE 8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]