Disease-gene associations mined from literature

Literature associating MYBPC3 and Ebstein anomaly

MYBPC3 [ENSP00000442795]

Myosin-binding protein C, cardiac-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; Fibronectin type III domain containing

Synonyms:  MYBPC3,  MYBPC3p,  hMYBPC3,  A8MXZ9,  B6D426 ...

Linkouts:  STRING  Pharos  UniProt  OMIM