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Glycogen storage disease type Ia (G6PC)
Stable Identifier
R-HSA-3274531
Type
Pathway
Species
Homo sapiens
Synonyms
GSD Ia
ReviewStatus
5/5
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Glycogen storage diseases (Homo sapiens)
Glycogen storage disease type Ia (G6PC) (Homo sapiens)
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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
18449899
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease
Chou, JY
,
Mansfield, BC
Hum. Mutat.
2008
8211187
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
Chou, JY
,
Sidbury, JB
,
Lei, K-J
,
Pan, CJ
,
Shelly, LL
Science
1993
Participants
Events
Defective G6PC does not hydrolyze glucose 6-phosphate
(Homo sapiens)
Participates
as an event of
Glycogen storage diseases (Homo sapiens)
Disease
Name
Identifier
Synonyms
glycogen storage disease I
DOID: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
Authored
D'Eustachio, P (2013-07-19)
Reviewed
Jassal, B (2015-08-17)
Created
D'Eustachio, P (2013-04-12)
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