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B3GALT6 mutants [Golgi membrane]
Stable Identifier
R-HSA-4420346
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 B3GALT6 causes EDSP2 and SEMDJL1 (Homo sapiens)
Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker (Homo sapiens)
B3GALT6 mutants [Golgi membrane] (Homo sapiens)
Participants
members
B3GALT6 C300S [Golgi membrane]
(Homo sapiens)
B3GALT6 D118Afs*160 [Golgi membrane]
(Homo sapiens)
B3GALT6 D156N [Golgi membrane]
(Homo sapiens)
B3GALT6 M1? [Golgi membrane]
(Homo sapiens)
B3GALT6 P67L [Golgi membrane]
(Homo sapiens)
B3GALT6 R197Afs*81 [Golgi membrane]
(Homo sapiens)
B3GALT6 R232C [Golgi membrane]
(Homo sapiens)
B3GALT6 S65G [Golgi membrane]
(Homo sapiens)
B3GALT6 D207H [Golgi membrane]
(Homo sapiens)
B3GALT6 G217S [Golgi membrane]
(Homo sapiens)
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