Functions of dystrophin and dystrophin associated proteins.
Dystrophin is a protein product of the X-linked gene mutation that is responsible for Duchenne and Becker muscular dystrophies. The protein binds actin and associates with dystrophin-glycoprotein complex to link the cytoskeleton to the extracellular matrix. Defects in the components of the dystrophin-glycoprotein complex are responsible for several phenotypes of muscular dystrophy.
Michalak
M
M
Department of Biochemistry, University of Alberta, Edmonton, Canada.
Opas
M
M
D000818:Animals; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000502:physiology*; D016189:Dystrophin / Q000235:genetics / Q000502:physiology*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000503:physiopathology*; D009137:Muscular Dystrophy, Animal / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D049411:Utrophin
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008565:Membrane Proteins; D049411:Utrophin