[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/myh7-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/myh7-wikipedia\/","headline":"MYH7 &#8211; Wikipedia","name":"MYH7 &#8211; Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Protein-coding gene in the species Homo sapiens MYH7 Available structures PDB Ortholog search:","datePublished":"2016-10-26","dateModified":"2016-10-26","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/0\/09\/PBB_Protein_MYH7_image.jpg\/250px-PBB_Protein_MYH7_image.jpg","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/0\/09\/PBB_Protein_MYH7_image.jpg\/250px-PBB_Protein_MYH7_image.jpg","height":"250","width":"250"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/myh7-wikipedia\/","wordCount":6071,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Protein-coding gene in the species Homo sapiensMYH7Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes3DTP, 4DB1, 4P7H, 4XA1, 4XA3, 4XA4, 4XA6, 4PA0, 5CHX, 5CJ0, 5CJ4, 5CJ1, 2FXO, 2FXM       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4IdentifiersAliasesMYH7, CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM, myosin, heavy chain 7, cardiac muscle, beta, myosin heavy chain 7External IDsOMIM: 160760 MGI: 2155600 HomoloGene: 68044 GeneCards: MYH7 WikidataMYH7 is a gene encoding a myosin heavy chain beta (MHC-\u03b2) isoform (slow twitch) expressed primarily in the heart, but also in skeletal muscles (type I fibers).[5] This isoform is distinct from the fast isoform of cardiac myosin heavy chain, MYH6, referred to as MHC-\u03b1. MHC-\u03b2 is the major protein comprising the thick filament in cardiac muscle and plays a major role in cardiac muscle contraction.Table of ContentsStructure[edit]Function[edit]Clinical significance[edit]References[edit]Further reading[edit]External links[edit]Structure[edit]MHC-\u03b2 is a 223 kDa protein composed of 1935 amino acids.[6][7]MHC-\u03b2 is a hexameric, asymmetric motor forming the bulk of the thick filament in cardiac muscle. MHC-\u03b2 is composed of N-terminal globular heads (20\u00a0nm) that project laterally, and alpha helical tails (130\u00a0nm) that dimerize and multimerize into a coiled-coil motif to form the light meromyosin (LMM), thick filament rod. The 9\u00a0nm alpha-helical neck region of each MHC-\u03b2 head non-covalently binds two light chains, essential light chain (MYL3) and regulatory light chain (MYL2).[8]  Approximately 300 myosin molecules constitute one thick filament.[9] There are two isoforms of cardiac MHC, \u03b1 and \u03b2, which display 93% homology. MHC-\u03b1 and MHC-\u03b2 display significantly different enzymatic properties, with \u03b1 having 150-300% the contractile velocity and 60-70% actin attachment time as that of \u03b2.[10][11] MHC-\u03b2 is predominately expressed in the human ventricle, while MHC-\u03b1 is predominantly expressed in human atria.[citation needed]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Function[edit]It is the enzymatic activity of the ATPase in the myosin head that cyclically hydrolyzes ATP, fueling the myosin power stroke. This process converts chemical to mechanical energy, and propels shortening of the sarcomeres in order to generate intraventricular pressure and power. An accepted mechanism for this process is that ADP-bound myosin attaches to actin while thrusting tropomyosin inwards,[12] then the S1-S2 myosin lever arm rotates ~70\u00b0 about the converter domain and drives actin filaments towards the M-line.[13]Clinical significance[edit]Several mutations in MYH7 have been associated with inherited cardiomyopathies. Lowrance et al. were the first to identify the causative mutation Arg403Gln for hypertrophic cardiomyopathy (HCM) in the MYH7 gene.[14] Studies have since identified several more MYH7 mutations, that are estimated to be causal in approximately 40% of HCM cases. This condition is an autosomal-dominant disease, in which a single copy of the variant gene causes enlargement of the left ventricle of the heart.  Disease onset usually occurs later in life, perhaps triggered by changes in thyroid hormone function and\/or physical stress.Another condition associated to mutations in this gene is paraspinal and proximal muscle atrophy.[15]A myopathy caused by a MYH7 mutation in pigs.References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000092054 &#8211; Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053093 &#8211; Ensembl, May 2017^ &#8220;Human PubMed Reference:&#8221;. National Center for Biotechnology Information, U.S. National Library of Medicine.^ &#8220;Mouse PubMed Reference:&#8221;. National Center for Biotechnology Information, U.S. National Library of Medicine.^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). &#8220;Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6&#8221;. Proceedings of the National Academy of Sciences of the United States of America. 108 (25): 10196\u2013201. Bibcode:2011PNAS..10810196Q. doi:10.1073\/pnas.1107413108. PMC\u00a03121857. PMID\u00a021633012.^ &#8220;Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)&#8221;. heartproteome.org. Archived from the original on 4 March 2016. Retrieved 14 October 2015.^ Zong, N. C.; Li, H; Li, H; Lam, M. P.; Jimenez, R. C.; Kim, C. S.; Deng, N; Kim, A. K.; Choi, J. H.; Zelaya, I; Liem, D; Meyer, D; Odeberg, J; Fang, C; Lu, H. J.; Xu, T; Weiss, J; Duan, H; Uhlen, M; Yates Jr, 3rd; Apweiler, R; Ge, J; Hermjakob, H; Ping, P (2013). &#8220;Integration of cardiac proteome biology and medicine by a specialized knowledgebase&#8221;. Circulation Research. 113 (9): 1043\u201353. doi:10.1161\/CIRCRESAHA.113.301151. PMC\u00a04076475. PMID\u00a023965338.^ Palmer BM (September 2005). &#8220;Thick filament proteins and performance in human heart failure&#8221;. Heart Failure Reviews. 10 (3): 187\u201397. doi:10.1007\/s10741-005-5249-1. PMID\u00a016416042. S2CID\u00a020691228.^ Harris SP, Lyons RG, Bezold KL (March 2011). &#8220;In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament&#8221;. Circulation Research. 108 (6): 751\u2013764. doi:10.1161\/CIRCRESAHA.110.231670. PMC\u00a03076008. PMID\u00a021415409.^ Palmer BM (September 2005). &#8220;Thick filament proteins and performance in human heart failure&#8221;. Heart Failure Reviews. 10 (3): 187\u201397. doi:10.1007\/s10741-005-5249-1. PMID\u00a016416042. S2CID\u00a020691228.^ Alpert NR, Brosseau C, Federico A, Krenz M, Robbins J, Warshaw DM (October 2002). &#8220;Molecular mechanics of mouse cardiac myosin isoforms&#8221;. American Journal of Physiology. Heart and Circulatory Physiology. 283 (4): H1446-54. doi:10.1152\/ajpheart.00274.2002. PMID\u00a012234796.^ McKillop DF, Geeves MA (August 1993). &#8220;Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament&#8221;. Biophysical Journal. 65 (2): 693\u2013701. Bibcode:1993BpJ&#8230;.65..693M. doi:10.1016\/S0006-3495(93)81110-X. PMC\u00a01225772. PMID\u00a08218897.^ Tyska MJ, Warshaw DM (January 2002). &#8220;The myosin power stroke&#8221;. Cell Motility and the Cytoskeleton. 51 (1): 1\u201315. doi:10.1002\/cm.10014. PMID\u00a011810692.^ Geisterfer-Lowrance, A. A.; Kass, S; Tanigawa, G; Vosberg, H. P.; McKenna, W; Seidman, C. E.; Seidman, J. G. (1990). &#8220;A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation&#8221;. Cell. 62 (5): 999\u20131006. doi:10.1016\/0092-8674(90)90274-i. PMID\u00a01975517. S2CID\u00a045182243.^ Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO (July 2013). &#8220;A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement&#8221;. Neuromuscular Disorders. 23 (7): 580\u20136. doi:10.1016\/j.nmd.2013.04.003. PMID\u00a023707328. S2CID\u00a06194064.Further reading[edit]Jaaskelainen P, Miettinen R, Karkkainen P, Toivonen L, Laakso M, Kuusisto J (2004). &#8220;Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes&#8221;. Annals of Medicine. 36 (1): 23\u201332. doi:10.1080\/07853890310017161. PMID\u00a015000344. S2CID\u00a029985750.Kamisago M, Schmitt JP, McNamara D, Seidman C, Seidman JG (2007). &#8220;Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure&#8221;. Novartis Foundation Symposium. Novartis Foundation Symposia. 274: 176\u201389, discussion 189\u201395, 272\u20136. doi:10.1002\/0470029331.ch11. ISBN\u00a09780470015971. PMID\u00a017019812.External links[edit]PDB gallery2fxm: Structure of the human beta-myosin S2 fragment2fxo: Structure of the human beta-myosin S2 fragment^ Zong, N. C.; Li, H; Li, H; Lam, M. P.; Jimenez, R. C.; Kim, C. S.; Deng, N; Kim, A. K.; Choi, J. H.; Zelaya, I; Liem, D; Meyer, D; Odeberg, J; Fang, C; Lu, H. J.; Xu, T; Weiss, J; Duan, H; Uhlen, M; Yates Jr, 3rd; Apweiler, R; Ge, J; Hermjakob, H; Ping, P (2013). &#8220;Integration of cardiac proteome biology and medicine by a specialized knowledgebase&#8221;. Circulation Research. 113 (9): 1043\u201353. doi:10.1161\/CIRCRESAHA.113.301151. PMC\u00a04076475. PMID\u00a023965338.       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