Reaction: Defective G6PC does not hydrolyze glucose 6-phosphate
- in pathway: Glycogen storage disease type Ia (G6PC)
Glucose-6-phosphatase (G6PC) associated with the inner face of the endoplasmic reticulum membrane normally catalyzes the hydrolysis of glucose-6-phosphate to glucose and orthophosphate. Defects in glucose-6-phosphatase are the cause of glycogen storage disease type 1a. The three missense mutant forms of G6PC annotated here are examples of the many that have been described (Lei et al. 1993, 1995, Chou and Mansfield 2008).
Reaction - small molecule participants:
H2O [endoplasmic reticulum lumen]
G6P [endoplasmic reticulum lumen]
Reactome.org reaction link: R-HSA-3274540
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Reaction input - small molecules:
water
alpha-D-glucose 6-phosphate(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-3274540