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. [provided by RefSeq, Jul 2012]
Function
actin binding; protein binding; structural constituent of muscle
Synonyms
MYBPC2; myosin binding protein C, fast type; MYBPC; MYBPCF; myosin-binding protein C, fast-type; fast MyBP-C; C-protein, skeletal muscle fast isoform; fast-type muscle myosin-binding-protein C
Citations
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