MYBPC2

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively.

{{reflist}}

{{refbegin | 2}}

• {{cite journal | vauthors = Luther PK, Bennett PM, Knupp C, Craig R, Padrón R, Harris SP, Patel J, Moss RL | title = Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle | journal = Journal of Molecular Biology | volume = 384 | issue = 1 | pages = 60–72 | date = Dec 2008 | pmid = 18817784 | pmc = 2593797 | doi = 10.1016/j.jmb.2008.09.013 }}
• {{cite journal | vauthors = Hitomi N, Kubo T, Kitaoka H, Hirota T, Hamada T, Hoshikawa E, Hayato K, Okawa M, Kimura A, Doi YL | title = A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy | journal = Journal of Cardiology | volume = 56 | issue = 2 | pages = 189–96 | date = Sep 2010 | pmid = 20605413 | doi = 10.1016/j.jjcc.2010.04.003 | doi-access = free }}
• {{cite journal | vauthors = Flashman E, Korkie L, Watkins H, Redwood C, Moolman-Smook JC | title = Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle | journal = FEBS Letters | volume = 582 | issue = 3 | pages = 434–8 | date = Feb 2008 | pmid = 18201573 | doi = 10.1016/j.febslet.2008.01.004 | s2cid = 40828345 | doi-access = }}
• {{cite journal | vauthors = Moolman-Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, Watkins H | title = Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations | journal = Circulation Research | volume = 91 | issue = 8 | pages = 704–11 | date = Oct 2002 | pmid = 12386147 | doi=10.1161/01.res.0000036750.81083.83| doi-access = free }}
• {{cite journal | vauthors = Weber FE, Vaughan KT, Reinach FC, Fischman DA | title = Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment | journal = European Journal of Biochemistry | volume = 216 | issue = 2 | pages = 661–9 | date = Sep 1993 | pmid = 8375400 | doi=10.1111/j.1432-1033.1993.tb18186.x| doi-access = }}
• {{cite journal | vauthors = Guardiani C, Cecconi F, Livi R | title = Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C | journal = Proteins | volume = 70 | issue = 4 | pages = 1313–22 | date = Mar 2008 | pmid = 17876814 | doi = 10.1002/prot.21621 | arxiv = 0712.1554 | s2cid = 2685944 }}
• {{cite journal | vauthors = Meurs KM, Kuan M | title = Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene | journal = Environmental and Molecular Mutagenesis | volume = 52 | issue = 2 | pages = 161–4 | date = Mar 2011 | pmid = 20740642 | doi = 10.1002/em.20596 | bibcode = 2011EnvMM..52..161M | s2cid = 20916169 }}
• {{cite journal | vauthors = Welikson RE, Fischman DA | title = 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 | journal = Journal of Cell Science | volume = 115 | issue = Pt 17 | pages = 3517–26 | date = Sep 2002 | doi = 10.1242/jcs.115.17.3517 | pmid = 12154082 | doi-access = free }}
• {{cite journal | vauthors = Alyonycheva TN, Mikawa T, Reinach FC, Fischman DA | title = Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain | journal = The Journal of Biological Chemistry | volume = 272 | issue = 33 | pages = 20866–72 | date = Aug 1997 | pmid = 9252413 | doi=10.1074/jbc.272.33.20866| doi-access = free }}

{{refend}}

{{NLM content}}

{{gene-19-stub}}