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PMM2 mutants [cytosol]
Stable Identifier
R-HSA-3781873
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 PMM2 causes PMM2-CDG (Homo sapiens)
Defective PMM2 does not isomerise Man6P to Man1P (Homo sapiens)
PMM2 mutants [cytosol] (Homo sapiens)
Participants
members
PMM2 D188G [cytosol]
(Homo sapiens)
PMM2 D65Y [cytosol]
(Homo sapiens)
PMM2 G117R [cytosol]
(Homo sapiens)
PMM2 R141H [cytosol]
(Homo sapiens)
PMM2 T237R [cytosol]
(Homo sapiens)
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