Reactome | Defective ARSB does not hydrolyse C4S/C6S chains

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Defective ARSB does not hydrolyse C4S/C6S chains Show undefined attributes

authored	[InstanceEdit:2282887] Jassal, B, 2012-05-28
catalystActivity	[CatalystActivity:9631784] N-acetylgalactosamine-4-sulfatase activity of ARSB mutants:Ca2+ [lysosomal lumen]
category	transition
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2282887] Jassal, B, 2012-05-28
dbId	2282889
disease	[Disease:2326770] mucopolysaccharidosis VI
displayName	Defective ARSB does not hydrolyse C4S/C6S chains
edited	[InstanceEdit:2282887] Jassal, B, 2012-05-28
entityFunctionalStatus	[EntityFunctionalStatus:2282890] loss_of_function of ARSB mutants:Ca2+ [lysosomal lumen]
eventOf	[Pathway:R-HSA-2206285] MPS VI - Maroteaux-Lamy syndrome - Homo sapiens
input	[DefinedSet:R-ALL-2065251] C4S/C6S chains [lysosomal lumen] [SimpleEntity:R-ALL-1605715] H2O [lysosomal lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2314594] Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy [LiteratureReference:2314599] Maroteaux-lamy syndrome: five novel mutations and their structural localization [LiteratureReference:2314582] Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity [LiteratureReference:2314581] Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes [LiteratureReference:2314580] Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ARSB does not hydrolyse C4S/C6S chains
normalReaction	[Reaction:R-HSA-1793207] ARSB hydrolyses C4S/C6S chains
releaseDate	2012-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-2282889
summation	[Summation:2314579] Arylsulfatase B using calcium cofactor (ARSB:Ca2+) hydrolys...

Referrals

(hasEvent)

[Pathway:R-HSA-2206285] MPS VI - Maroteaux-Lamy syndrome