The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 84 kDa (predicted molecular weight: 84 kDa).
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
Glycan biosynthesis; glycogen biosynthesis.
Involvement in disease
Defects 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.