DISEASES

Disease-gene associations mined from literature

Literature associating MYBPC1 and myofibrillar myopathy 7

MYBPC1 [ENSP00000400908]

Myosin-binding protein C, slow-type; 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