Reactome | Defective IDUA does not hydrolyse Heparan sulfate chain(6)

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Defective IDUA does not hydrolyse Heparan sulfate chain(6) Show undefined attributes

authored	[InstanceEdit:2206283] Jassal, B, 2012-04-26
catalystActivity	[CatalystActivity:9631928] L-iduronidase activity of IDUA mutants [lysosomal lumen]
category	transition
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2206283] Jassal, B, 2012-04-26
crossReference	[DatabaseIdentifier:12020942] Mondo:0001586
dbId	2206299
disease	[Disease:2207693] mucopolysaccharidosis I
displayName	Defective IDUA does not hydrolyse Heparan sulfate chain(6)
edited	[InstanceEdit:2206283] Jassal, B, 2012-04-26
entityFunctionalStatus	[EntityFunctionalStatus:2250305] loss_of_function of IDUA mutants [lysosomal lumen]
eventOf	[Pathway:R-HSA-2206302] MPS I - Hurler syndrome (HS-GAG degradation) - Homo sapiens
input	[SimpleEntity:R-ALL-1605715] H2O [lysosomal lumen] [SimpleEntity:R-ALL-2090055] IdoA-GlcNS3S- group [lysosomal lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2207691] A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype [LiteratureReference:2207694] alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype [LiteratureReference:2207697] Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective IDUA does not hydrolyse Heparan sulfate chain(6)
normalReaction	[Reaction:R-HSA-2090037] IDUA hydrolyses Heparan sulfate chain(6)
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-2206299
summation	[Summation:2206295] Absence of alpha-L-iduronidase (IDUA, MIM:252800), the enzym...
updateTrackers	[UpdateTracker:9777929] Update Tracker - [FailedReaction:2206299] Defective IDUA does not hydrolyse Heparan sulfate chain(6) - v68:[addCatalystActivity] [UpdateTracker:9779740] Update Tracker - [FailedReaction:2206299] Defective IDUA does not hydrolyse Heparan sulfate chain(6) - v64:[add_removeInput]

Referrals

(updatedInstance)	[UpdateTracker:9777929] Update Tracker - [FailedReaction:2206299] Defective IDUA does not hydrolyse Heparan sulfate chain(6) - v68:[addCatalystActivity] [UpdateTracker:9779740] Update Tracker - [FailedReaction:2206299] Defective IDUA does not hydrolyse Heparan sulfate chain(6) - v64:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-2206302] MPS I - Hurler syndrome (HS-GAG degradation)

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