G6PC1
Description
The G6PC1 gene, encodes for glucose-6-phosphatase, a critical enzyme in glucose metabolism. It plays a vital role in the final step of glycogenolysis, the breakdown of glycogen to glucose, and gluconeogenesis, the synthesis of glucose from non-carbohydrate sources. Glucose-6-phosphatase is primarily found in the liver, kidneys, and intestines, where it acts as a gatekeeper for glucose release into the bloodstream. This enzyme removes a phosphate group from glucose-6-phosphate, enabling it to leave the cell and enter the circulatory system, thus maintaining blood glucose levels. Variations in the G6PC1 gene can lead to several metabolic disorders, highlighting its importance in maintaining glucose homeostasis.
Associated Diseases
- von Gierke disease (Glycogen Storage Disease Type Ia)
- Type 1 Diabetes Mellitus
- Non-alcoholic fatty liver disease (NAFLD)
- Growth hormone deficiency
- Hypoglycemia
Did you know?
Mutations in the G6PC1 gene are responsible for the majority of cases of von Gierke disease, a rare metabolic disorder characterized by severe hypoglycemia and accumulation of glycogen in the liver and kidneys.
