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GBE1 mutants [cytosol]
Stable Identifier
R-HSA-3878772
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Glycogen storage diseases (Homo sapiens)
Glycogen storage disease type IV (GBE1) (Homo sapiens)
Defective GBE1 does not catalyze branch formation in growing glycogen chains (liver) (Homo sapiens)
GBE1 mutants [cytosol] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
8613547
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Wu, JY
,
Chen, Y-T
,
Kishnani, P
,
Bao, Y
J Clin Invest
1996
Participants
members
GBE1 F257L [cytosol]
(Homo sapiens)
GBE1 R515C [cytosol]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
glycogen storage disease IV
DOID:2750
deficiency of 1,4-alpha-glucan branching enzyme, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Amylopectinosis, Glycogen storage disease, type IV (disorder)
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