DISEASES

Disease-gene associations mined from literature

Literature associating MYBPC2 and hypertrophic cardiomyopathy 1

MYBPC2 [ENSP00000350332]

C-protein, skeletal muscle fast 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; Fibronectin type III domain containing

Synonyms:  MYBPC2,  MYBPC2p,  hMYBPC2,  MYBPC2-001,  MYBPC2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM