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ARSB mutants [lysosomal lumen]
Stable Identifier
R-HSA-2314611
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 carbohydrate metabolism (Homo sapiens)
Mucopolysaccharidoses (Homo sapiens)
MPS VI - Maroteaux-Lamy syndrome (Homo sapiens)
Defective ARSB does not hydrolyse C4S/C6S chains (Homo sapiens)
ARSB mutants:Ca2+ [lysosomal lumen] (Homo sapiens)
ARSB mutants [lysosomal lumen] (Homo sapiens)
Defective ARSB does not hydrolyse DS (Homo sapiens)
ARSB mutants:Ca2+ [lysosomal lumen] (Homo sapiens)
ARSB mutants [lysosomal lumen] (Homo sapiens)
Participants
members
ARSB C117R [lysosomal lumen]
(Homo sapiens)
ARSB G144R [lysosomal lumen]
(Homo sapiens)
ARSB P116H [lysosomal lumen]
(Homo sapiens)
ARSB R95Q [lysosomal lumen]
(Homo sapiens)
ARSB Y86del [lysosomal lumen]
(Homo sapiens)
ARSB H393P [lysosomal lumen]
(Homo sapiens)
Participates
as a component of
ARSB mutants:Ca2+ [lysosomal lumen] (Homo sapiens)
Disease
Name
Identifier
Synonyms
mucopolysaccharidosis VI
DOID:12800
Maroteaux-Lamy syndrome, arylsulfatase B deficiency, Maroteaux - Lamy syndrome, Maroteaux-Lamy syndrome (disorder), deficiency of N-acetylgalactosamine-4-sulfatase (disorder)
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