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NCBI Description of GYS1 |
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. |
Community Annotation of GYS1 Add / Edit GYS1: Annotations
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Figure notes
• "Mouse over" a mutation to see details. |
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Data details