Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

URL of this page: https://medlineplus.gov/genetics/gene/mybpc3/

MYBPC3 gene

myosin binding protein C3

Normal Function

The MYBPC3 gene provides instructions for making cardiac myosin-binding protein C (MyBP-C), which is found in heart (cardiac) muscle cells. Cardiac MyBP-C is associated with the sarcomere, a structure that forms the basic unit of muscle contraction. Sarcomeres are made of overlapping thick and thin protein filaments that undergo cycles of attachment and release. These cycles allow the thin filaments to slide past the thick filaments, which causes the sarcomere to shorten and the muscle to contract. The regular contraction of cardiac muscle pumps blood to the rest of the body.

Within the sarcomeres, cardiac MyBP-C attaches to the thick filaments and plays an important role in the interaction between the thick and thin filaments. By binding to and releasing phosphate groups, cardiac MyBP-C may help regulate the speed at which the thin filaments slide past the thick filaments. This helps fine-tune cardiac muscle contraction.

Cardiac MyBP-C is also thought to play a role in maintaining the structure of muscle cells by acting as a platform or scaffold that helps to organize other proteins that are important for muscle contraction.

Health Conditions Related to Genetic Changes

Nonsyndromic hypertrophic cardiomyopathy

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the MYBPC3 gene are the most common genetic cause of nonsyndromic hypertrophic cardiomyopathy. This condition is characterized by the thickening (hypertrophy) of the cardiac muscle. Some of the pathogenic variants that are associated with nonsyndromic hypertrophic cardiomyopathy lead to the substitution of one amino acid for another in cardiac MyBP-C. This causes cells to produce a version of the protein that does not function properly. The altered protein likely interferes with the interaction between the thick and thin filaments, which impairs sarcomere function and disrupts muscle contraction. Pathogenic variants in the MYBPC3 gene can also lead to a reduction in the amount of cardiac MyBP-C that is produced by the cell or cause cells to make a shortened version of the protein that is not integrated into the sarcomere. However, it is not clear exactly how these changes lead to the hypertrophy seen in people with nonsyndromic hypertrophic cardiomyopathy.

More About This Health Condition

Other Names for This Gene

  • FHC
  • MYBP-C

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • 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. doi: 10.1007/s100380300007. Citation on PubMed
  • Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021 Jan;150:101-108. doi: 10.1016/j.yjmcc.2020.10.003. Epub 2020 Oct 11. Citation on PubMed
  • Desai D, Song T, Singh RR, Baby A, McNamara J, Green LC, Nabavizadeh P, Ericksen M, Bazrafshan S, Natesan S, Sadayappan S. MYBPC3 D389V Variant Induces Hypercontractility in Cardiac Organoids. Cells. 2024 Nov 19;13(22):1913. doi: 10.3390/cells13221913. Citation on PubMed
  • Doh CY, Schmidt AV, Chinthalapudi K, Stelzer JE. Bringing into focus the central domains C3-C6 of myosin binding protein C. Front Physiol. 2024 Feb 29;15:1370539. doi: 10.3389/fphys.2024.1370539. eCollection 2024. Citation on PubMed
  • Helms AS, Tang VT, O'Leary TS, Friedline S, Wauchope M, Arora A, Wasserman AH, Smith ED, Lee LM, Wen XW, Shavit JA, Liu AP, Previs MJ, Day SM. Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy. JCI Insight. 2020 Jan 30;5(2):e133782. doi: 10.1172/jci.insight.133782. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. doi: 10.1085/jgp.200609714. Citation on PubMed or Free article on PubMed Central
  • Lopes LR, Ho CY, Elliott PM. Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice. Eur Heart J. 2024 Aug 9;45(30):2727-2734. doi: 10.1093/eurheartj/ehae421. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Moller DV, Andersen PS, Hedley P, Ersboll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Kober 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central
  • Rodriguez 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. Citation on PubMed
  • Tudurachi BS, Zavoi A, Leonte A, Tapoi L, Ureche C, Birgoan SG, Chiuariu T, Anghel L, Radu R, Sascau RA, Statescu C. An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy. Int J Mol Sci. 2023 Jun 22;24(13):10510. doi: 10.3390/ijms241310510. Citation on PubMed
  • Waldmuller 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, Schonberger J, Zeh W, Jurmann B, Brodherr T, Borgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Ozcelik 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. Citation on PubMed
  • Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur J Hum Genet. 2015 Jul;23(7):922-8. doi: 10.1038/ejhg.2014.211. Epub 2014 Oct 22. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.