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EXT1 mutants [Golgi membrane]
Stable Identifier
R-HSA-3730938
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Golgi membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective EXT1 causes exostoses 1, TRPS2 and CHDS (Homo sapiens)
Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan (Homo sapiens)
EXT1 mutants:EXT2 [Golgi membrane] (Homo sapiens)
EXT1 mutants [Golgi membrane] (Homo sapiens)
Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain (Homo sapiens)
EXT1 mutants:EXT2 [Golgi membrane] (Homo sapiens)
EXT1 mutants [Golgi membrane] (Homo sapiens)
Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue (Homo sapiens)
EXT1 mutants:EXT2 [Golgi membrane] (Homo sapiens)
EXT1 mutants [Golgi membrane] (Homo sapiens)
Participants
members
EXT1 L490Rfs*9 [Golgi membrane]
(Homo sapiens)
EXT1 G339D [Golgi membrane]
(Homo sapiens)
EXT1 G198Afs*54 [Golgi membrane]
(Homo sapiens)
EXT1 R339L [Golgi membrane]
(Homo sapiens)
EXT1 R340C [Golgi membrane]
(Homo sapiens)
Participates
as a component of
EXT1 mutants:EXT2 [Golgi membrane] (Homo sapiens)
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