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Details on Person Defective IDUA does not hydrolyse Heparan sulfate chain(6)

Class:Id	FailedReaction:2206299
_displayName	Defective IDUA does not hydrolyse Heparan sulfate chain(6)
_doRelease	TRUE
_timestamp	2018-01-29 11:51:16
authored	[InstanceEdit:2206283] Jassal, B, 2012-04-26
catalystActivity	[CatalystActivity:9631928] L-iduronidase activity of IDUA mutants [lysosomal lumen]
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2206283] Jassal, B, 2012-04-26
disease	[Disease:2207693] mucopolysaccharidosis I
edited	[InstanceEdit:2206283] Jassal, B, 2012-04-26
entityFunctionalStatus	[EntityFunctionalStatus:2250305] loss_of_function of IDUA mutants [lysosomal lumen]
input	[SimpleEntity:1605715] H2O [lysosomal lumen] [SimpleEntity:2090055] IdoA-GlcNS3S- group [lysosomal lumen]
isChimeric	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
modified	[InstanceEdit:2206313] Jassal, B, 2012-04-26 [InstanceEdit:2207696] Jassal, B, 2012-04-27 [InstanceEdit:2210366] Jassal, B, 2012-04-27 [InstanceEdit:2247519] Jassal, B, 2012-05-14 [InstanceEdit:2250306] Jassal, B, 2012-05-15 [InstanceEdit:2262727] Jassal, B, 2012-05-20 [InstanceEdit:2263440] Jassal, B, 2012-05-21 [InstanceEdit:2263452] Jassal, B, 2012-05-21 [InstanceEdit:2318591] Jassal, B, 2012-06-14 [InstanceEdit:2318607] Jassal, B, 2012-06-14 [InstanceEdit:2318609] Jassal, B, 2012-06-14 [InstanceEdit:2428935] Jassal, B, 2012-08-09 [InstanceEdit:2454166] Jassal, B, 2012-08-22 [InstanceEdit:2457642] Jassal, B, 2012-08-27 [InstanceEdit:2457648] Jassal, B, 2012-08-27 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9036038] Jassal, Bijay, 2018-01-29 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective IDUA does not hydrolyse Heparan sulfate chain(6)
normalReaction	[Reaction:2090037] IDUA hydrolyses Heparan sulfate chain(6) [Homo sapiens]
releaseDate	2012-09-18
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2464828] R-HSA-2206299.4
summation	[Summation:2206295] Absence of alpha-L-iduronidase (IDUA, MIM:252800), the enzym...
(hasEvent)	[Pathway:2206302] MPS I - Hurler syndrome (HS-GAG degradation) [Homo sapiens]
(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]
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