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POMGNT1 mutants [Golgi membrane]
Stable Identifier
R-HSA-5617042
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 POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 (Homo sapiens)
Defective POMGNT1 does not transfer GlcNAc from UDP-GlcNAc to Man-O-Ser-DAG1 (Homo sapiens)
POMGNT1 mutants [Golgi membrane] (Homo sapiens)
Participants
members
POMGNT1 P493R [Golgi membrane]
(Homo sapiens)
POMGNT1 R605Vfs*29 [Golgi membrane]
(Homo sapiens)
POMGNT1 R63* [Golgi membrane]
(Homo sapiens)
POMGNT1 S550N [Golgi membrane]
(Homo sapiens)
POMGNT1 W475* [Golgi membrane]
(Homo sapiens)
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