Involvement in diseaseDefects in GYS1 are the cause of muscle glycogen storage disease type 0 (GSD0b) [MIM:611556]; also known as muscle glycogen synthase deficiency. GSD0b is a metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work.
Sequence similaritiesBelongs to the glycosyltransferase 3 family.
ab118621, at 5 µg/ml, staining Glycogen synthase 1 in formalin fixed, paraffin embedded Human prostate tissue by Immunohistochemistry followed by biotinylated secondary antibody, alkaline phosphatase-streptavidin and chromoge
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