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PGM1 mutants [cytosol]
Stable Identifier
R-HSA-5609930
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective PGM1 causes PGM1-CDG (Homo sapiens)
Defective PGM1 does not isomerise G6P to G1P (Homo sapiens)
PGM1 mutants:Mg2+ [cytosol] (Homo sapiens)
PGM1 mutants [cytosol] (Homo sapiens)
Participants
members
PGM1 D263Y [cytosol]
(Homo sapiens)
PGM1 D62H [cytosol]
(Homo sapiens)
PGM1 N38Y [cytosol]
(Homo sapiens)
PGM1 R221Vfs*13 [cytosol]
(Homo sapiens)
PGM1 T115A [cytosol]
(Homo sapiens)
Participates
as a component of
PGM1 mutants:Mg2+ [cytosol] (Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation
DOID:5212
carbohydrate-deficient glycoprotein syndrome
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