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Genetics Home Reference: your guide to understanding genetic conditions
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MYBPC3

Reviewed February 2013

What is the official name of the MYBPC3 gene?

The official name of this gene is “myosin binding protein C, cardiac.”

MYBPC3 is the gene's official symbol. The MYBPC3 gene is also known by other names, listed below.

What is the normal function of the MYBPC3 gene?

The MYBPC3 gene provides instructions for making the cardiac myosin binding protein C (cardiac MyBP-C), which is found in heart (cardiac) muscle cells. In these cells, cardiac MyBP-C is associated with a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. 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. Regular contractions of cardiac muscle pump blood to the rest of the body.

In cardiac muscle sarcomeres, cardiac MyBP-C attaches to thick filaments and keeps them from being broken down. Cardiac MyBP-C has chemical groups called phosphate groups attached to it; when the phosphate groups are removed, cardiac MyBP-C is broken down, followed by the breakdown of the proteins of the thick filament. Cardiac MyBP-C also regulates the rate of muscle contraction, although the mechanism is not fully understood.

Does the MYBPC3 gene share characteristics with other genes?

The MYBPC3 gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing). It also belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing). It also belongs to a family of genes called MYBP (myosin binding proteins).

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 MYBPC3 gene related to health conditions?

familial hypertrophic cardiomyopathy - caused by mutations in the MYBPC3 gene

Mutations in the MYBPC3 gene are a common cause of familial hypertrophic cardiomyopathy, accounting for up to 30 percent of all cases. This condition is characterized by thickening (hypertrophy) of the cardiac muscle. Although some people with familial hypertrophic cardiomyopathy have no obvious health effects, all affected individuals have an increased risk of heart failure and sudden death.

MYBPC3 gene mutations that cause familial hypertrophic cardiomyopathy lead to an abnormally short or otherwise altered cardiac MyBP-C protein. It is unknown how these changes cause hypertrophy of the heart muscle.

other disorders - associated with the MYBPC3 gene

Mutations in the MYBPC3 gene have been associated with other heart conditions. Mutations have been found in people with dilated cardiomyopathy and left ventricular noncompaction. However, the role MYBPC3 gene mutations play in either condition is unclear. Dilated cardiomyopathy weakens and enlarges the heart, preventing it from pumping blood efficiently. Affected individuals have an increased risk of heart failure and premature death. Left ventricular noncompaction 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 individuals with left ventricular noncompaction.

Where is the MYBPC3 gene located?

Cytogenetic Location: 11p11.2

Molecular Location on chromosome 11: base pairs 47,331,405 to 47,352,701

The MYBPC3 gene is located on the short (p) arm of chromosome 11 at position 11.2.

The MYBPC3 gene is located on the short (p) arm of chromosome 11 at position 11.2.

More precisely, the MYBPC3 gene is located from base pair 47,331,405 to base pair 47,352,701 on chromosome 11.

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 MYBPC3?

You and your healthcare professional may find the following resources about MYBPC3 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 MYBPC3 gene or gene products?

  • C-protein, cardiac muscle isoform
  • MYBP-C
  • myosin-binding protein C, cardiac-type
  • MYPC3_HUMAN

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 MYBPC3?

breakdown ; cardiac ; cardiomyopathy ; contraction ; dilated ; familial ; gene ; heart failure ; hypertrophic ; hypertrophy ; muscle cells ; myosin ; phosphate ; protein ; sarcomere ; 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

  • António M, Costa C, Venâncio M, Martins P, Dionísio T, Pires A, Sousa G, Santos I, Mota A, Duarte R, Costa H, Ribeiro L, Saraiva J, Castela E. Left ventricular noncompaction: analysis of a pediatric population. Rev Port Cardiol. 2011 Mar;30(3):295-311. English, Portuguese. (http://www.ncbi.nlm.nih.gov/pubmed/21638988?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)
  • 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)
  • Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9. (http://www.ncbi.nlm.nih.gov/pubmed/20215591?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)
  • Kulikovskaya I, McClellan GB, Levine R, Winegrad S. Multiple forms of cardiac myosin-binding protein C exist and can regulate thick filament stability. J Gen Physiol. 2007 May;129(5):419-28. Erratum in: J Gen Physiol. 2009 Feb;133(2):225. (http://www.ncbi.nlm.nih.gov/pubmed/17470661?dopt=Abstract)
  • Marston S, Copeland O, Gehmlich K, Schlossarek S, Carrier L. How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J Muscle Res Cell Motil. 2012 May;33(1):75-80. doi: 10.1007/s10974-011-9268-3. Epub 2011 Nov 5. Review. Erratum in: J Muscle Res Cell Motil. 2012 May;33(1):81. Carrrier, Lucie [corrected to Carrier, Lucie]. (http://www.ncbi.nlm.nih.gov/pubmed/22057632?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)
  • OMIM: MYOSIN-BINDING PROTEIN C, CARDIAC (http://omim.org/entry/600958)
  • Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009 Oct;17(10):1241-9. doi: 10.1038/ejhg.2009.34. Epub 2009 Mar 18. (http://www.ncbi.nlm.nih.gov/pubmed/19293840?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4607)
  • Previs MJ, Beck Previs S, Gulick J, Robbins J, Warshaw DM. Molecular mechanics of cardiac myosin-binding protein C in native thick filaments. Science. 2012 Sep 7;337(6099):1215-8. doi: 10.1126/science.1223602. Epub 2012 Aug 23. (http://www.ncbi.nlm.nih.gov/pubmed/22923435?dopt=Abstract)
  • Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet. 2011 Aug 1;4(4):367-74. doi: 10.1161/CIRCGENETICS.110.959270. Epub 2011 May 6. (http://www.ncbi.nlm.nih.gov/pubmed/21551322?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)
  • Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Özcelik C, Osterziel KJ, Loeffler M, Maisch B, Regitz-Zagrosek V, Schunkert H, Scheffold T; German Competence Network Heart Failure. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi: 10.1093/eurjhf/hfr074. Epub 2011 Jul 12. (http://www.ncbi.nlm.nih.gov/pubmed/21750094?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: September 29, 2014