MYBPC3 myosin binding protein C3 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 4607)
Symbol: MYBPC3
Full name: myosin binding protein C3
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CMD1MM; CMH4; FHC; LVNC10; MYBP-C; cMyBP-C
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]
Expression: Restricted expression toward heart (RPKM 426.0)
Orthologs: mouse
Gene size: 21297bp
Exon count: 35