Gene G6PC
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Also known as
G6PT, G6Pase, glucose-6-phosphatase catalytic subunitOverview
G6PC (Glucose-6-Phosphatase Catalytic Subunit) encodes the catalytic subunit of glucose-6-phosphatase, an enzyme that hydrolyzes glucose-6-phosphate to free glucose in the final step of gluconeogenesis and glycogenolysis. This enzyme is essential for releasing glucose from the liver into the bloodstream to maintain blood sugar levels during fasting.Mutations in G6PC cause glycogen storage disease type Ia (GSD Ia, von Gierke disease), characterized by severe fasting hypoglycemia, hepatomegaly, growth retardation, and metabolic abnormalities including lactic acidosis, hyperlipidemia, and hyperuricemia. Without treatment, affected individuals cannot maintain blood glucose during fasting and are at risk for hepatic adenomas. Management involves frequent feedings and uncooked cornstarch to prevent hypoglycemia.
Understanding your G6PC genetic status is important for carrier screening and diagnosis of glycogen storage disease. Early identification enables proper dietary management to prevent hypoglycemia and long-term complications.