Meyahealth
HomeGeneticsGeneMYBPC3 gene
Back to Gene
MYBPC3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MYBPC3 gene

The MYBPC3 gene provides instructions for making cardiac myosin-binding protein C, which plays a critical role in the contraction of heart muscle.

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. Within the sarcomeres, cardiac MyBP-C attaches to thick filaments and plays an important role in the interaction between thick and thin filaments. By binding to and releasing phosphate groups, cardiac MyBP-C helps regulate the speed at which filaments slide past one another, fine-tuning cardiac muscle contraction. It is also thought to act as a scaffold to organize other proteins important for muscle contraction.

Health Conditions Related to Genetic Changes

Nonsyndromic hypertrophic cardiomyopathy

Pathogenic variants in the MYBPC3 gene are the most common genetic cause of nonsyndromic hypertrophic cardiomyopathy, a condition characterized by the thickening (hypertrophy) of the cardiac muscle. These genetic changes can lead to several outcomes:

  • Substitution of amino acids: Cells produce a version of the protein that does not function properly, interfering with the interaction between thick and thin filaments.
  • Reduced production: A reduction in the total amount of cardiac MyBP-C produced by the cell.
  • Truncated proteins: Cells make a shortened version of the protein that is not integrated into the sarcomere.

While these changes impair sarcomere function and disrupt muscle contraction, it is not yet clear exactly how these changes lead to the hypertrophy seen in affected individuals.

Other Names for This Gene

  • FHC
  • MYBP-C

Frequently Asked Questions

Patients often notice shortness of breath, chest pain, palpitations, or fainting during physical activity. Some may have no symptoms until a sudden cardiac event occurs. Early signs can include unexplained fatigue, dizziness, or a heart murmur detected on a routine exam.
definitive diagnosis requires a DNA test, usually a blood draw or saliva sample, sent to a genetics laboratory. The lab sequences the MYBPC3 gene to look for pathogenic variants. Results are typically available within 4–6 weeks, and a genetic counselor will explain the findings and implications for the patient and family.
Individuals with a pathogenic variant should avoid high‑intensity competitive sports that strain the heart. Low‑to‑moderate exercise, such as walking or swimming, is usually safe, but a cardiologist will tailor recommendations. Regular cardiac monitoring (echocardiogram, ECG) every 1–2 years is advised to track changes in heart structure and function.
The mutation is inherited in an autosomal dominant pattern, meaning each child has a 50% chance of inheriting the variant. Couples can undergo pre‑conception or prenatal genetic testing (amniocentesis or chorionic villus sampling) to determine if the fetus carries the mutation. Early detection allows for monitoring and early intervention after birth.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ