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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; IHC; ICC; IP.
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
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  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]