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MYBPC3 myosin binding protein C3

Gene ID: 4607, updated on 26-Mar-2023
Gene type: protein coding
Also known as: FHC; CMH4; CMD1MM; LVNC10; MYBP-C; cMyBP-C


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]

Associated conditions

See all available tests in GTR for this gene

A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.
GeneReviews: Not available
Hypertrophic cardiomyopathy 4See labs
Left ventricular noncompaction 10
MedGen: C3715165OMIM: 615396GeneReviews: Not available
See labs
Primary dilated cardiomyopathySee labs

Copy number response

Copy number response

No evidence available (Last evaluated 2023-01-10)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-10)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 11; NC_000011.10 (47331406..47352702, complement)
Total number of exons:


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