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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 metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective NEU1 causes sialidosis (Homo sapiens)
Defective NEU1 does not hydrolyse Neu5Ac from glycoconjugates (Homo sapiens)
NEU1 mutants:GLB1:CTSA dimer [lysosomal lumen] (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)
Participates
as a component of
NEU1 mutants:GLB1:CTSA dimer [lysosomal lumen] (Homo sapiens)
Disease
Name
Identifier
Synonyms
lysosomal storage disease
DOID:3211
lysosomal storage metabolism disorder, inborn lysosomal enzyme disorder, disorder of lysosomal enzyme (disorder)
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