MYBPC2
| Myosin binding protein C, fast type | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | MYBPC2 ; MYBPC; MYBPCF | ||||||||||||
| External IDs | OMIM: 160793 HomoloGene: 3331 GeneCards: MYBPC2 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 4606 | 233199 | |||||||||||
| Ensembl | ENSG00000086967 | ENSMUSG00000038670 | |||||||||||
| UniProt | Q14324 | Q5XKE0 | |||||||||||
| RefSeq (mRNA) | NM_004533 | NM_146189 | |||||||||||
| RefSeq (protein) | NP_004524 | NP_666301 | |||||||||||
| Location (UCSC) |
Chr 19: 50.43 – 50.47 Mb |
Chr 7: 44.5 – 44.52 Mb | |||||||||||
| PubMed search | |||||||||||||
Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene.[1]
Function
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.[1]
References
Further reading
- Luther PK, Bennett PM, Knupp C, Craig R, Padrón R, Harris SP, Patel J, Moss RL (Dec 2008). "Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle". Journal of Molecular Biology 384 (1): 60–72. doi:10.1016/j.jmb.2008.09.013. PMC 2593797. PMID 18817784.
- Hitomi N, Kubo T, Kitaoka H, Hirota T, Hamada T, Hoshikawa E, Hayato K, Okawa M, Kimura A, Doi YL (Sep 2010). "A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of Cardiology 56 (2): 189–96. doi:10.1016/j.jjcc.2010.04.003. PMID 20605413.
- Flashman E, Korkie L, Watkins H, Redwood C, Moolman-Smook JC (Feb 2008). "Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle". FEBS Letters 582 (3): 434–8. doi:10.1016/j.febslet.2008.01.004. PMID 18201573.
- Moolman-Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, Watkins H (Oct 2002). "Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations". Circulation Research 91 (8): 704–11. doi:10.1161/01.res.0000036750.81083.83. PMID 12386147.
- Weber FE, Vaughan KT, Reinach FC, Fischman DA (Sep 1993). "Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment". European Journal of Biochemistry / FEBS 216 (2): 661–9. doi:10.1111/j.1432-1033.1993.tb18186.x. PMID 8375400.
- Guardiani C, Cecconi F, Livi R (Mar 2008). "Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C". Proteins 70 (4): 1313–22. doi:10.1002/prot.21621. PMID 17876814.
- Meurs KM, Kuan M (Mar 2011). "Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene". Environmental and Molecular Mutagenesis 52 (2): 161–4. doi:10.1002/em.20596. PMID 20740642.
- Welikson RE, Fischman DA (Sep 2002). "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 of Cell Science 115 (Pt 17): 3517–26. PMID 12154082.
- Alyonycheva TN, Mikawa T, Reinach FC, Fischman DA (Aug 1997). "Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain". The Journal of Biological Chemistry 272 (33): 20866–72. doi:10.1074/jbc.272.33.20866. PMID 9252413.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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