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MYBPC3 gene

myosin binding protein C3

Key facts

Official symbol
MYBPC3
Full name
MYBPC3
Chromosome
11
Map location
11p11.2
Organism
Homo sapiens
NCBI Gene ID
4607
Also known as
CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C

Function summary

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].

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Data source: NCBI Gene · alsesAI Gene Library