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ALG11 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4570572
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective ALG11 causes CDG-1p (Homo sapiens)
Defective ALG11 does not transfer Man to the N-glycan precursor (Homo sapiens)
ALG11 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
ALG11 E398K [endoplasmic reticulum membrane]
(Homo sapiens)
ALG11 L381S [endoplasmic reticulum membrane]
(Homo sapiens)
ALG11 L86S [endoplasmic reticulum membrane]
(Homo sapiens)
ALG11 Q318P [endoplasmic reticulum membrane]
(Homo sapiens)
ALG11 Y279S [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
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