Glycogen synthase regulating glycogen/glucose levels and is activated by dephosphorylation. In humans, there are two paralogous isozymes of glycogen synthase: The liver enzyme expression is restricted to the liver, whereas the muscle enzyme is widely expressed. Liver glycogen serves as a storage pool to maintain the blood glucose level during fasting, whereas muscle glycogen synthesis accounts for disposal of up to 90% of ingested glucose. The role of muscle glycogen is as a reserve to provide energy during bursts of activity. Meanwhile, the muscle isozyme plays a major role in the cellular response to long-term adaptation to hypoxia. Notably, hypoxia only induces
Adult polyglucosan body disease People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60. APBD is an autosomal recessive disorder that is caused when a person inherits genes from both parents containing one or more loss-of-function mutations in the gene "GBE1" which encodes for glycogen branching enzyme, also called 1,4-alpha-glucan-branching enzyme. The "GBE1" gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most "GBE1" gene mutations result in a