MYBPC2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene.[5]
AliasesMYBPC2, MYBPC, MYBPCF, myosin binding protein C, fast type, fsMyBP-C, myosin binding protein C2
External IDsOMIM: 160793; MGI: 1336170; HomoloGene: 3331; GeneCards: MYBPC2; OMA:MYBPC2 - orthologs
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| Aliases | MYBPC2, MYBPC, MYBPCF, myosin binding protein C, fast type, fsMyBP-C, myosin binding protein C2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 160793; MGI: 1336170; HomoloGene: 3331; GeneCards: MYBPC2; OMA:MYBPC2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively.[5]
