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g6pc

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Official Full Name
glucose-6-phosphatase, catalytic subunit
Background
Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.
Synonyms
G6PC; glucose-6-phosphatase, catalytic subunit; G6PT, glucose 6 phosphatase, catalytic (glycogen storage disease type I, von Gierke disease); glucose-6-phosphatase; glycogen storage disease type I; von Gierke disease; GSD1a; GSD1; AW107337; G-6-Pase; G6Pase; G6Pase-alpha; G6PC_HUMAN; G6PT; Glucose-6-phosphatase alpha; MGC163350; MGC93613; RP23-281C18.19; G6PC1

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