Entrez gene ID | | 2997 |
Official gene symbol | | GYS1 |
Full name | | glycogen synthase 1 (muscle) |
Aliases | | ,GSY,GYS, |
Gene summary | | 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. |
Location | | Chromosome: 19 Locus: 19q13.3 |
Gene position | | 49496610 - 49471382 Map Viewer |
Gene orientation | | minus |
Gene size | | 25229 bp |
Gene sequence |
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OMIM ID | | 138570 |
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