G6PC1

The protein encoded by G6PC1 is glucose-6-phosphatase catalytic subunit 1, commonly referred to as G6Pase-α. It functions as a key enzyme in glucose homeostasis by catalyzing the hydrolysis of glucose-6-phosphate to glucose and inorganic phosphate in the endoplasmic reticulum, enabling glucose release into the bloodstream.
G6PC1 is primarily expressed in the liver and kidney, playing a critical role in gluconeogenesis and glycogenolysis pathways. Mutations in G6PC1 cause glycogen storage disease type Ia (von Gierke disease), characterized by severe hypoglycemia and hepatomegaly. Current research focuses on enzyme replacement therapies and gene editing strategies to restore G6Pase activity for disease treatment.