Genomes and Genes
Gene Symbol: MYBPC2
Description: myosin binding protein C, fast type
Alias: MYBPC, MYBPCF, myosin-binding protein C, fast-type, C-protein, skeletal muscle fast isoform, fast MyBP-C, fast-type muscle myosin-binding-protein C, testicular tissue protein Li 126
- Tarkiainen M, Sipola P, Jalanko M, Helio T, Laine M, Jarvinen V, et al. Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson. 2016;18:33 pubmed publisher..Of the subjects with the MYBPC-Q1016X mutation, 32 had left ventricular hypertrophy (LVH, LV maximal wall thickness ≥ 13 mm in CMR) and 15 ..
- Li M, Andersson Lendahl M, Sejersen T, Arner A. Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy. J Gen Physiol. 2016;147:309-22 pubmed publisherMyosin-binding protein C (MyBPC) in the muscle sarcomere interacts with several contractile and structural proteins. Mutations in the cardiac isoform (MyBPC-3) in humans, or animal knockout, are associated with cardiomyopathy...
- Gresham K, Stelzer J. The contributions of cardiac myosin binding protein C and troponin I phosphorylation to β-adrenergic enhancement of in vivo cardiac function. J Physiol. 2016;594:669-86 pubmed publisher..e. serine to alanine substitution at Ser273, Ser282 and Ser302; MyBPC(PKA-)) to generate a novel mouse model expressing non-phosphorylatable PKA residues in TnI and MyBP-C (DBL(PKA-))...
- Jiang J, Burgon P, Wakimoto H, Onoue K, Gorham J, O Meara C, et al. Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis. Proc Natl Acad Sci U S A. 2015;112:9046-51 pubmed publisherHomozygous cardiac myosin binding protein C-deficient (Mybpc(t/t)) mice develop dramatic cardiac dilation shortly after birth; heart size increases almost twofold. We have investigated the mechanism of cardiac enlargement in these hearts...
- Guardiani C, Cecconi F, Livi R. Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C. Proteins. 2008;70:1313-22 pubmed..This indicates the CD-loop as a natively unfolded sequence with a likely coupling between folding and ligand binding. ..
- Luther P, Bennett P, Knupp C, Craig R, Padrón R, Harris S, et al. Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle. J Mol Biol. 2008;384:60-72 pubmed publisher..However, in the MyBP-C-deficient hearts these extra meridional reflections are weak or absent, suggesting that they are due to MyBP-C itself or to MyBP-C in combination with a head perturbation brought about by the presence of MyBP-C. ..
- Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil J, et al. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle. 2013;3:3 pubmed publisher..This dataset represents a valuable resource for future functional investigations. ..
- Weber F, Vaughan K, Reinach F, Fischman D. Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. Eur J Biochem. 1993;216:661-9 pubmed..Sequence comparison of all three proteins has allowed us to map a highly conserved region between the first and second C2 motifs, the only large spacer sequence present between motifs in these proteins. ..
- Hitomi N, Kubo T, Kitaoka H, Hirota T, Hamada T, Hoshikawa E, et al. A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy. J Cardiol. 2010;56:189-96 pubmed publisherA few studies reported that some mutations in the cardiac myosin-binding protein C (MyBPC) gene were associated with dilated phase of hypertrophic cardiomyopathy (D-HCM) resembling dilated cardiomyopathy (DCM)...
- Tanjore R, Rangaraju A, Kerkar P, Calambur N, Nallari P. MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol. 2008;24:127-30 pubmed..Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle...
- 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 publisherMyosin-binding protein C (MyBPC) is proposed to take on a trimeric collar arrangement around the thick filament backbone in cardiac muscle, based on interactions between cardiac MyBPC domains C5 and C8...
- Welikson R, Fischman D. The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. J Cell Sci. 2002;115:3517-26 pubmed..These latter sites are neither sufficient nor required for cable formation. ..
- Meurs K, Kuan M. Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene. Environ Mol Mutagen. 2011;52:161-4 pubmed publisher..of the CpGs within the exonic regions of the skeletal muscle isoform of the myosin binding protein C gene (MYBPC2); there are no known mutations that lead to the development of familial human disease within this gene...
- Singh R, Dunn J, Qadan M, Hall N, Wang K, Root D. Whole length myosin binding protein C stabilizes myosin S2 as measured by gravitational force spectroscopy. Arch Biochem Biophys. 2018;638:41-51 pubmed publisher..The C-terminal end of myosin binding protein C (MyBPC) binds to LMM and the N-terminal end can bind either S2 or actin...