MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]
Forensic Context
A study in rhesus macaques identified the MYBPC3 as a differentially expressed gene associated with hypertrophic cardiomyopathy, where it was upregulated in affected animals [Rivas et al. DOI:10.1038/s41598-024-82770-4]. In a forensic context, an mRNA profiling assay for organ tissue identification utilized the MYBPC3 as a heart marker, with its primer sequence specifically adjusted in an updated multiplex to ensure human specificity and reliable detection in forensic samples [van den Berge & Sijen DOI:10.1002/elps.201700241]. A study in humans identified cardiac myosin-binding protein C (cMyBP-C) as a robust emerging biomarker with high cardiac specificity and sensitivity, showing significant elevation in cases of acute myocardial infarction and sudden cardiac death [Cătinas et al. DOI:10.3390/ijms26146818].