Myosin Binding Protein C, Cardiac (MYBPC3)

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

SPN	T767
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.

Reference

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"An investigation into the protonation states of the C1 domain of cardiac myosin-binding protein C."
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"Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy."
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J. Med. Genet. 35:205-210(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy."
J. Med. Genet. 35:253-254(1998) [PubMed] [Europe PMC] [Abstract]

"The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events."
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"Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations."
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"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
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"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]

Erratum
Circulation 109:3258-3258(2004)

"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

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"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]

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J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]

"Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene."
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"Shared genetic causes of cardiac hypertrophy in children and adults."
N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy."
PLoS ONE 8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]