PYGL : glycogen phosphorylase L
Description
The PYGL gene encodes for glycogen phosphorylase, liver isoform, a crucial enzyme involved in glycogenolysis, the breakdown of glycogen into glucose. This process plays a pivotal role in maintaining blood glucose levels, particularly during periods of fasting or intense physical activity. The PYGL gene is expressed primarily in the liver, but also in other tissues like skeletal muscle. Mutations in the PYGL gene can lead to a rare genetic disorder known as glycogen storage disease type VI (GSD VI, also called Hers disease), characterized by impaired glycogen breakdown and hypoglycemia.
Associated Diseases
Did you know?
Glycogen, a branched polymer of glucose, is the primary form of carbohydrate storage in animals. It is stored mainly in the liver and skeletal muscle.
