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Genetics Home Reference: your guide to understanding genetic conditions
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MYH7

Reviewed February 2013

What is the official name of the MYH7 gene?

The official name of this gene is “myosin, heavy chain 7, cardiac muscle, beta.”

MYH7 is the gene's official symbol. The MYH7 gene is also known by other names, listed below.

What is the normal function of the MYH7 gene?

The MYH7 gene provides instructions for making a protein known as the cardiac beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.

In cardiac and skeletal muscle cells, the β-myosin heavy chain forms part of a larger protein called type II myosin. Each type II myosin protein consists of two heavy chains (produced from the MYH7 gene) and two pairs of regulatory light chains (produced from several other genes). The heavy chains each have two parts: a head region and a tail region. The head region, called the motor domain, interacts with a thin filament protein called actin, which is important for cell movement and shape. The long tail region interacts with other proteins, including the tail regions of other myosin proteins.

Type II myosin generates the mechanical force that is needed for muscles to contract. It is integral to muscle cell structures called sarcomeres, which are the basic units of muscle contraction. Sarcomeres are composed of thick filaments made up of type II myosin and thin filaments made up of actin. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body. The coordinated contraction and relaxation of skeletal muscles allow the body to move.

Does the MYH7 gene share characteristics with other genes?

The MYH7 gene belongs to a family of genes called myosins (myosins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the MYH7 gene related to health conditions?

familial hypertrophic cardiomyopathy - caused by mutations in the MYH7 gene

Mutations in the MYH7 gene are a common cause of familial hypertrophic cardiomyopathy, accounting for up to 35 percent of all cases. This condition is characterized by thickening (hypertrophy) of the cardiac muscle. Although some people with hypertrophic cardiomyopathy have no obvious health effects, all affected individuals have an increased risk of heart failure and sudden death.

Most MYH7 gene mutations that cause familial hypertrophic cardiomyopathy change single protein building blocks (amino acids) in the β-myosin heavy chain protein. The altered protein is likely incorporated into the thick filament, but it may not function properly. It is unclear how MYH7 gene mutations lead to the features of familial hypertrophic cardiomyopathy.

Laing distal myopathy - caused by mutations in the MYH7 gene

At least five mutations in the MYH7 gene have been found to cause Laing distal myopathy. Most of these mutations result in changes in the tail region of the β-myosin heavy chain. Some of these mutations change single amino acids, while others delete a single amino acid from the heavy chain. Changes in the MYH7 gene probably disrupt the normal function of type II myosin in muscle cells. Specifically, researchers suspect that mutations alter the structure of the tail region of the β-myosin heavy chain. The altered tail region may be unable to interact with other proteins, including the tail regions of other myosin proteins. It is unclear how these changes in the structure and function of myosin lead to progressive muscle weakness in people with Laing distal myopathy.

myosin storage myopathy - caused by mutations in the MYH7 gene

At least five mutations in the MYH7 gene are involved in myosin storage myopathy. This condition causes muscle weakness and is characterized by the formation of protein clumps, which include type II myosin, within type I skeletal muscle fibers. The MYH7 gene mutations that cause myosin storage myopathy change amino acids in the tail region of cardiac β-myosin heavy chain. Researchers suggest that these mutations impair the proper formation of thick filaments. The abnormal proteins accumulate in type I skeletal muscle fibers, forming the protein clumps characteristic of the disorder. It is unclear how the gene mutations lead to muscle weakness in people with myosin storage myopathy.

other disorders - associated with the MYH7 gene

Mutations in the MYH7 gene can cause dilated cardiomyopathy. This condition weakens and enlarges the heart, preventing it from pumping blood efficiently. Dilated cardiomyopathy increases the risk of heart failure and premature death. Researchers have found about a dozen MYH7 gene mutations in people with this condition. These mutations likely disrupt the normal structure and function of type II myosin. Little is known about the connection between abnormal myosin and the signs and symptoms of this disorder.

MYH7 gene mutations are also associated with left ventricular noncompaction, another heart muscle disorder that occurs when the lower left chamber of the heart (left ventricle) does not develop correctly. The heart muscle is weakened and cannot pump blood efficiently, often leading to heart failure. Abnormal heart rhythms (arrhythmias) can also occur in people with this condition. At least 10 MYH7 gene mutations have been found in people with left ventricular noncompaction, although it is unclear what role these mutations play in the disorder.

Researchers are working to determine why some of the conditions that result from MYH7 mutations predominantly affect cardiac muscle and others predominantly affect skeletal muscle.

Where is the MYH7 gene located?

Cytogenetic Location: 14q12

Molecular Location on chromosome 14: base pairs 23,412,737 to 23,435,660

The MYH7 gene is located on the long (q) arm of chromosome 14 at position 12.

The MYH7 gene is located on the long (q) arm of chromosome 14 at position 12.

More precisely, the MYH7 gene is located from base pair 23,412,737 to base pair 23,435,660 on chromosome 14.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MYH7?

You and your healthcare professional may find the following resources about MYH7 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MYH7 gene or gene products?

  • beta-myosin heavy chain
  • MGC138376
  • MGC138378
  • MPD1
  • MYH7_HUMAN
  • MYHCB
  • MyHC-beta
  • myhc-slow
  • Myosin, cardiac, heavy chain, beta
  • Myosin heavy chain 7
  • myosin heavy chain (AA 1-96)
  • Myosin heavy chain, cardiac muscle beta isoform
  • myosin, heavy polypeptide 7, cardiac muscle, beta
  • SPMD
  • SPMM

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MYH7?

acids ; actin ; amino acid ; cardiac ; cardiomyopathy ; cell ; contraction ; dilated ; distal ; domain ; familial ; gene ; heart failure ; hypertrophic ; hypertrophy ; motor ; muscle cell ; muscle cells ; myosin ; myosin heavy chain ; myosin light chain ; myosin type II ; protein ; sarcomere ; skeletal muscle ; type I skeletal muscle fibers ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Armel TZ, Leinwand LA. Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6291-6. doi: 10.1073/pnas.0900107106. Epub 2009 Mar 31. (http://www.ncbi.nlm.nih.gov/pubmed/19336582?dopt=Abstract)
  • Bashyam MD, Savithri GR, Kumar MS, Narasimhan C, Nallari P. Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet. 2003;48(2):55-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12601548?dopt=Abstract)
  • Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002 Oct 18;298(1):116-20. (http://www.ncbi.nlm.nih.gov/pubmed/12379228?dopt=Abstract)
  • Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct;2(5):442-9. doi: 10.1161/CIRCGENETICS.109.861955. Epub 2009 Jul 24. (http://www.ncbi.nlm.nih.gov/pubmed/20031619?dopt=Abstract)
  • Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. (http://www.ncbi.nlm.nih.gov/pubmed/11106718?dopt=Abstract)
  • Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar;5(3):158-68. doi: 10.1038/ncpcardio1110. Epub 2008 Jan 29. Review. Erratum in: Nat Clin Pract Cardiovasc Med. 2008 Nov;5(11):747. (http://www.ncbi.nlm.nih.gov/pubmed/18227814?dopt=Abstract)
  • Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27. (http://www.ncbi.nlm.nih.gov/pubmed/18506004?dopt=Abstract)
  • Marston SB. How do mutations in contractile proteins cause the primary familial cardiomyopathies? J Cardiovasc Transl Res. 2011 Jun;4(3):245-55. doi: 10.1007/s12265-011-9266-2. Epub 2011 Mar 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21424860?dopt=Abstract)
  • McNally E, Dellefave L. Sarcomere mutations in cardiogenesis and ventricular noncompaction. Trends Cardiovasc Med. 2009 Jan;19(1):17-21. doi: 10.1016/j.tcm.2009.03.003. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19467449?dopt=Abstract)
  • Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. (http://www.ncbi.nlm.nih.gov/pubmed/15322983?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4625)
  • Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord. 2007 May;17(5):355-67. Epub 2007 Apr 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17434305?dopt=Abstract)
  • Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr;17(4):321-9. Epub 2007 Mar 2. (http://www.ncbi.nlm.nih.gov/pubmed/17336526?dopt=Abstract)
  • Perrot A, Schmidt-Traub H, Hoffmann B, Prager M, Bit-Avragim N, Rudenko RI, Usupbaeva DA, Kabaeva Z, Imanov B, Mirrakhimov MM, Dietz R, Wycisk A, Tendera M, Gessner R, Osterziel KJ. Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Mol Med (Berl). 2005 Jun;83(6):468-77. Epub 2005 Apr 22. (http://www.ncbi.nlm.nih.gov/pubmed/15856146?dopt=Abstract)
  • Rodríguez JE, McCudden CR, Willis MS. Familial hypertrophic cardiomyopathy: basic concepts and future molecular diagnostics. Clin Biochem. 2009 Jun;42(9):755-65. doi: 10.1016/j.clinbiochem.2009.01.020. Epub 2009 Feb 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19318019?dopt=Abstract)
  • Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003 Oct;54(4):494-500. (http://www.ncbi.nlm.nih.gov/pubmed/14520662?dopt=Abstract)
  • Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. (http://www.ncbi.nlm.nih.gov/pubmed/15358028?dopt=Abstract)
  • Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005 Apr;26(8):794-803. Epub 2005 Mar 15. (http://www.ncbi.nlm.nih.gov/pubmed/15769782?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2013
Published: November 17, 2014