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Keyword Gangliosidosis

UniProtKB (6) rdf/xml obo
DefinitionProtein which, if defective, causes gangliosidosis. Gangliosidosis defines any of a group of autosomal recessive lysosomal storage diseases characterized by the accumulation of gangliosides GM1 or GM2 and related glycoconiugates, and by progressive psychomotor deterioration. Subtypes include GM1-gangliosidoses and GM2-gangliosidoses.
CategoryDisease
Gene Ontologyglycosphingolipid metabolic process [ GO:0006687 ]