Aliases for MYBPC2 Gene
External Ids for MYBPC2 Gene
Previous GeneCards Identifiers for MYBPC2 Gene
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]
GeneCards Summary for MYBPC2 Gene
MYBPC2 (Myosin Binding Protein C2) is a Protein Coding gene. Diseases associated with MYBPC2 include Lethal Congenital Contracture Syndrome 4 and Hypertrophic Cardiomyopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is MYBPC3.
UniProtKB/Swiss-Prot Summary for MYBPC2 Gene
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.