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CHSY1 mutants [Golgi membrane]
Stable Identifier
R-HSA-3636795
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 CHSY1 causes TPBS (Homo sapiens)
Defective CHSY1 does not transfer GalNAc to chondroitin (Homo sapiens)
CHSY1 mutants [Golgi membrane] (Homo sapiens)
Defective CHSY1 does not transfer GlcA to chondroitin (Homo sapiens)
CHSY1 mutants [Golgi membrane] (Homo sapiens)
Participants
members
CHSY1 E33Sfs*2 [Golgi membrane]
(Homo sapiens)
CHSY1 G19_L28del [Golgi membrane]
(Homo sapiens)
CHSY1 P539R [Golgi membrane]
(Homo sapiens)
CHSY1 Q69* [Golgi membrane]
(Homo sapiens)
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