Defective G6PC does not hydrolyze glucose 6-phosphate

Stable Identifier
R-HSA-3274540
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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).

Literature References
PubMed ID Title Journal Year
8211187 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

Lei, K-J, Shelly, LL, Pan, CJ, Sidbury, JB, Chou, JY

Science 1993
18449899 Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease

Chou, JY, Mansfield, BC

Hum. Mutat. 2008
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glucose-6-phosphatase activity of G6PC mutants [endoplasmic reticulum membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
glycogen storage disease I 2749 deficiency of glucose-6-phosphatase, glycogenosis type I, von Gierke's disease, glycogen storage disease type I, Glycogen storage disease, type I (disorder), von Gierke disease
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