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LARGE mutants [Golgi membrane]
Stable Identifier
R-HSA-6785680
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 O-glycosylation of proteins (Homo sapiens)
Defective LARGE causes MDDGA6 and MDDGB6 (Homo sapiens)
Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA (Homo sapiens)
B4GAT1:LARGE mutants [Golgi membrane] (Homo sapiens)
LARGE mutants [Golgi membrane] (Homo sapiens)
Participants
members
LARGE E509K [Golgi membrane]
(Homo sapiens)
LARGE E669Gfs*26 [Golgi membrane]
(Homo sapiens)
LARGE S331F [Golgi membrane]
(Homo sapiens)
LARGE W495R [Golgi membrane]
(Homo sapiens)
Participates
as a component of
B4GAT1:LARGE mutants [Golgi membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital muscular dystrophy
DOID:0050557
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