Glycogen storage disease type Ia (G6PC)

Stable Identifier
R-HSA-3274531
Type
Pathway
Species
Homo sapiens
Synonyms
GSD Ia
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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 Ia (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
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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