Genomes and Genes
Gene Symbol: Mybpc3
Description: myosin binding protein C, cardiac
Alias: myosin-binding protein C, cardiac-type, C-protein, cardiac muscle isoform, cardiac MyBP-C
- Govindan S, McElligott A, Muthusamy S, Nair N, Barefield D, Martin J, et al. Cardiac myosin binding protein-C is a potential diagnostic biomarker for myocardial infarction. J Mol Cell Cardiol. 2012;52:154-64 pubmed publisher..The presence of elevated levels of cMyBP-C in the blood provides a promising novel biomarker able to accurately rule in MI, thus aiding in the further assessment of ischemic heart disease...
- Harris S, Rostkova E, Gautel M, Moss R. Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism. Circ Res. 2004;95:930-6 pubmed
- Toepfer C, Sikkel M, Caorsi V, Vydyanath A, Torre I, Copeland O, et al. A post-MI power struggle: adaptations in cardiac power occur at the sarcomere level alongside MyBP-C and RLC phosphorylation. Am J Physiol Heart Circ Physiol. 2016;311:H465-75 pubmed publisher..These sensitivities to CMI are in accordance with phosphorylation-dependent regulatory roles for RLC and MyBP-C in crossbridge function and with compensatory adaptation in force and power that we observed in post-CMI trabeculae. ..
- Wang L, Lai G, Chu G, Liang X, Zhao Y. cMyBP-C was decreased via KLHL3-mediated proteasomal degradation in congenital heart diseases. Exp Cell Res. 2017;355:18-25 pubmed publisher..These results demonstrate that Hcy decreases the expression of cMyBP-C through a KLHL3-mediated ubiquitin-proteasome pathway, and thereby influences heart development. ..
- Mearini G, Gedicke C, Schlossarek S, Witt C, Kramer E, Cao P, et al. Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanisms. Cardiovasc Res. 2010;85:357-66 pubmed publisher..These data suggest that atrogin-1 specifically targets truncated M7t-cMyBP-C, but not WT-cMyBP-C, for proteasomal degradation and that MuRF1 indirectly reduces cMyBP-C levels by regulating the transcription of MHC. ..
- Brown L, Singh L, Sale K, Yu B, Trent R, Fajer P, et al. Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C. Eur Biophys J. 2002;31:400-8 pubmed..Taken together, these data suggest that the Motif X mutation may interfere with other, as yet unidentified, functional interactions. ..
- Schiaffino S, Reggiani C. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev. 1996;76:371-423 pubmed..Both myosin and troponin isoforms contribute to the differences in the resistance to fatigue of muscle fibers...
- Palmer B, Georgakopoulos D, Janssen P, Wang Y, Alpert N, Belardi D, et al. Role of cardiac myosin binding protein C in sustaining left ventricular systolic stiffening. Circ Res. 2004;94:1249-55 pubmed..Abnormal sarcomere shortening velocity and abbreviated muscle stiffening may underlie development of cardiac dysfunction associated with deficient incorporation of cMyBP-C. ..
- Sadayappan S, Gulick J, Osinska H, Martin L, Hahn H, Dorn G, et al. Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res. 2005;97:1156-63 pubmed..In contrast, when the MyBP-C(t/t) mice were bred to a TG line expressing normal MyBP-C (MyBP-CWT), the MyBP-C(t/t) phenotype was rescued. These data suggest that cMyBP-C phosphorylation is essential for normal cardiac function. ..
- Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, et al. Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. J Mol Med (Berl). 2002;80:412-22 pubmed..Kuopio University Hospital region in eastern Finland for variants in the cardiac myosin-binding protein C gene ( MYBPC3)...
- Yang Q, Sanbe A, Osinska H, Hewett T, Klevitsky R, Robbins J. In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ Res. 1999;85:841-7 pubmed..Fiber mechanics showed decreased unloading shortening velocity, maximum shortening velocity, and relative maximal power output. ..
- Govindan S, Sarkey J, Ji X, Sundaresan N, Gupta M, de Tombe P, et al. Pathogenic properties of the N-terminal region of cardiac myosin binding protein-C in vitro. J Muscle Res Cell Motil. 2012;33:17-30 pubmed publisher..By elucidating the deleterious effects of endogenously expressed cMyBP-C N-terminal fragments on sarcomere function, these data contribute to the understanding of contractile dysfunction following myocardial injury. ..
- Morita H, Larson M, Barr S, Vasan R, O Donnell C, Hirschhorn J, et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation. 2006;113:2697-705 pubmed..We detected 8 mutations in 9 individuals (2 women); 7 mutations in 5 sarcomere protein genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL3), and 1 GLA mutation...
- Niimura H, Patton K, McKenna W, Soults J, Maron B, Seidman J, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-51 pubmed..Rather, mutations in cardiac myosin binding protein-C, troponin I, and alpha-cardiac myosin heavy chain caused elderly-onset hypertrophic cardiomyopathy. ..
- Ababou A, Gautel M, Pfuhl M. Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2. J Biol Chem. 2007;282:9204-15 pubmed..We expect that this model will stimulate future research to further refine the details of this interaction and their importance for cardiomyopathy. ..
- Weisberg A, Winegrad S. Alteration of myosin cross bridges by phosphorylation of myosin-binding protein C in cardiac muscle. Proc Natl Acad Sci U S A. 1996;93:8999-9003 pubmed..These changes could alter rate constants for attachment to and detachment from the thin filament and thereby modify force production in activated cardiac muscle. ..
- Watkins H, Conner D, Thierfelder L, Jarcho J, MacRae C, McKenna W, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:434-7 pubmed..These findings define cardiac MyBP-C mutations as the cause of FHC on chromosome 11p and reaffirm that FHC is a disease of the sarcomere. ..
- Van Driest S, Vasile V, Ommen S, Will M, Tajik A, Gersh B, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:1903-10 pubmedWe sought to determine the frequency and phenotype of mutations in myosin binding protein C (MYBPC3) in a large outpatient cohort of patients with hypertrophic cardiomyopathy (HCM) seen at our tertiary referral center...
- Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, et al. 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. 1997;80:427-34 pubmed..The gene encoding cardiac MyBP-C (MYBPC3) in humans is located on chromosome 11p11...
- Gruen M, Gautel M. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. J Mol Biol. 1999;286:933-49 pubmed..We suggest that the regulatory function of MyBP-C is mediated by the interaction with S2, and that mutations in beta-myosin S2 may act by altering the interactions with MyBP-C. ..
- McConnell B, Jones K, Fatkin D, Arroyo L, Lee R, Aristizabal O, et al. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest. 1999;104:1235-44 pubmed..We also propose that mice bearing homozygous familial hypertrophic cardiomyopathy-causing mutations may provide useful tools for predicting the severity of disease that these mutations will cause in humans. ..
- Korte F, McDonald K, Harris S, Moss R. Loaded shortening, power output, and rate of force redevelopment are increased with knockout of cardiac myosin binding protein-C. Circ Res. 2003;93:752-8 pubmed..8+/-0.9 s(-1) versus MyBP-C-/-=7.7+/-1.7 s(-1)). These results suggest that cMyBP-C is an important regulator of myocardial work capacity whereby MyBP-C acts to limit power output. ..
- Niimura H, Bachinski L, Sangwatanaroj S, Watkins H, Chudley A, McKenna W, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248-57 pubmed..Clinical screening in adult life may be warranted for members of families characterized by hypertrophic cardiomyopathy. ..
- Flashman E, Korkie L, Watkins H, Redwood C, Moolman Smook J. Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle. FEBS Lett. 2008;582:434-8 pubmed publisher..These data have implications for the role and quaternary structure of MyBPC in skeletal muscle. ..
- Colson B, Bekyarova T, Fitzsimons D, Irving T, Moss R. Radial displacement of myosin cross-bridges in mouse myocardium due to ablation of myosin binding protein-C. J Mol Biol. 2007;367:36-41 pubmed