Western blot analysis of Lane 1: HeLa cell lysate, Lane 2: 293T MG cell lysate, Lane 3: RD cell lysate, Lane 4: mouse brain tissue lysate, Lane 5: rat heart tissue lysate using GYS1 monoclonal antibody, clone ARC1350 at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution.
The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene