Aliases for GYS1 Gene
External Ids for GYS1 Gene
Previous HGNC Symbols for GYS1 Gene
Previous GeneCards Identifiers for GYS1 Gene
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]
GeneCards Summary for GYS1 Gene
GYS1 (Glycogen Synthase 1) is a Protein Coding gene. Diseases associated with GYS1 include Glycogen Storage Disease 0, Muscle and Glycogen Storage Disease. Among its related pathways are Development IGF-1 receptor signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein kinase binding and glycogen (starch) synthase activity. An important paralog of this gene is GYS2.
UniProtKB/Swiss-Prot Summary for GYS1 Gene
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.