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GYS1 |
LOCUS ID | 2997 | ||||||||||
GENE_SYMBOL | GYS1 | ||||||||||
GENE NAME | glycogen synthase 1 | ||||||||||
SYNONYMNS | GSY, GYS | ||||||||||
CHROMOSOME | 19 | ||||||||||
HOMOLOGENE ID | 113557 |
microRNAs | NA | NA |
GENE SUMMARY |
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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. Altertively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] |
OBSERVATIONS |
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Complication | Evidence | PMID |
Cardiovascular | 1. Polymorphisms in GYS1 and APOE predict CV mortality in T2D families in a gender-specific fashion and independently of each other. Physical exercise seems to unmask the effect associated with the GYS1 polymorphism, rendering carriers of the variant allele less susceptible to the protective effect of exercise on the risk of CV death, which finding could be compatible with a previous demonstration of defective increase in the glycogen synthase protein in carriers of this polymorphism. | 17356695 |