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ALG12 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4722114
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 ALG12 causes CDG-1g (Homo sapiens)
Defective ALG12 does not add mannose to the N-glycan precursor (Homo sapiens)
ALG12 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
ALG12 F142V [endoplasmic reticulum membrane]
(Homo sapiens)
ALG12 G101R [endoplasmic reticulum membrane]
(Homo sapiens)
ALG12 L158P [endoplasmic reticulum membrane]
(Homo sapiens)
ALG12 R146Q [endoplasmic reticulum membrane]
(Homo sapiens)
ALG12 T67M [endoplasmic reticulum membrane]
(Homo sapiens)
ALG12 Y414* [endoplasmic reticulum membrane]
(Homo sapiens)
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