Glucose-6-phosphatase (G6PC) associated with the inner face of the endoplasmic reticulum membrane catalyzes the hydrolysis of glucose-6-phosphate to glucose and orthophosphate. This reaction is essentially irreversible (Lei et al. 1993, Ghosh et al. 2002). Defects in glucose-6-phosphatase are the cause of glycogen storage disease type 1a (Lei et al. 1993, 1995, Chou and Mansfield 2008).
|G6PC||glucose-6-phosphatase activity (0004346)|
|7573034||Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus||Am J Hum Genet||1995|
|12093795||The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis||J. Biol. Chem.||2002|
|8211187||Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a||Science||1993|
|18449899||Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease||Hum. Mutat.||2008|