Gene Symbol | GYS1 |
Entrez Gene ID | 2997 |
Full Name | glycogen synthase 1 |
Synonyms | GSY,GYS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | Glycogen storage disease 0, muscle, 611556 (3) |