Disease-gene associations mined from literature

Literature associating MYBPC1 and congenital myasthenic syndrome 4C

MYBPC1 [ENSP00000400908]

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 ...

Linkouts:  STRING  Pharos  UniProt