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NEU1 mutants [lysosomal lumen]
Stable Identifier
R-HSA-5674160
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lysosomal lumen
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective NEU1 causes sialidosis (Homo sapiens)
Defective NEU1 does not hydrolyse Neu5Ac from glycoconjugates (Homo sapiens)
NEU1 mutants [lysosomal lumen] (Homo sapiens)
Participants
members
NEU1 E377* [lysosomal lumen] (Homo sapiens)
NEU1 L303P [lysosomal lumen] (Homo sapiens)
NEU1 R225P [lysosomal lumen] (Homo sapiens)
NEU1 W23* [lysosomal lumen] (Homo sapiens)
NEU1 W29* [lysosomal lumen] (Homo sapiens)
Disease
Name
Identifier
Synonyms
lysosomal storage disease
3211
lysosomal storage metabolism disorder, inborn lysosomal enzyme disorder, disorder of lysosomal enzyme (disorder)
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