Literature associating MYBPC1 and lethal congenital contracture syndrome
C-protein, skeletal muscle slow isoform; 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; Belongs to the immunoglobulin superfamily. MyBP family.
Synonyms: MYBPC1, MYBPC1p, hMYBPC1, F8VZE0, F8VZY0 ...