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C1GALT1C1 mutants [Golgi membrane]
Stable Identifier
R-HSA-6785506
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 C1GALT1C1 causes TNPS (Homo sapiens)
Defective C1GALT1C1 does not bind C1GALT1 (Homo sapiens)
C1GALT1:C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)
C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)
Participants
members
C1GALT1C1 D131E [Golgi membrane]
(Homo sapiens)
C1GALT1C1 E152K [Golgi membrane]
(Homo sapiens)
C1GALT1C1 M1I [Golgi membrane]
(Homo sapiens)
C1GALT1C1 R68* [Golgi membrane]
(Homo sapiens)
C1GALT1C1 S193P [Golgi membrane]
(Homo sapiens)
Participates
as a component of
C1GALT1:C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
carcinoma
DOID:305
epithelioma, malignant Epithelioma
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