Aliases for MYBPC1 Gene
External Ids for MYBPC1 Gene
Previous GeneCards Identifiers for MYBPC1 Gene
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for MYBPC1 Gene
MYBPC1 (Myosin Binding Protein C, Slow Type) is a Protein Coding gene. Diseases associated with MYBPC1 include Arthrogryposis, Distal, Type 1B and Lethal Congenital Contracture Syndrome 4. Among its related pathways are Striated Muscle Contraction and Cardiac conduction. GO annotations related to this gene include actin binding and titin binding. An important paralog of this gene is MYBPC3.
UniProtKB/Swiss-Prot for MYBPC1 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.