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ALG13:ALG14 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5633244
Type
Complex
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective ALG14 causes ALG14-CMS (Homo sapiens)
Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP (Homo sapiens)
ALG13:ALG14 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
components
ALG13(1-165) [endoplasmic reticulum membrane]
(Homo sapiens)
ALG14 mutants [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital myasthenic syndrome
DOID:3635
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