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The MYBPC3 gene encodes the cardiac isoform of myosin-binding protein C (cMyBP-C), a thick-filament associated protein found exclusively in heart muscle cells. cMyBP-C is a crucial component of the sarcomere—the fundamental contractile unit of striated muscle—where it plays both structural and regulatory roles. Loss or dysfunction of cMyBP-C leads to severe disruption in heart structure and function, including hypertrophy, disarrayed myocytes, increased calcium sensitivity, fibrosis, and impaired systolic/diastolic performance.
Modulation of sarcomere structure and function
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