Reactome | Defective HYAL1 does not hydrolyse Chondroitin chains

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Defective HYAL1 does not hydrolyse Chondroitin chains Show undefined attributes

authored	[InstanceEdit:2318591] Jassal, B, 2012-06-14
catalystActivity	[CatalystActivity:9631747] hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen]
category	transition
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2318591] Jassal, B, 2012-06-14
crossReference	[DatabaseIdentifier:12020936] Mondo:0019249
dbId	2318585
disease	[Disease:2226052] mucopolysaccharidosis
displayName	Defective HYAL1 does not hydrolyse Chondroitin chains
edited	[InstanceEdit:2318591] Jassal, B, 2012-06-14
entityFunctionalStatus	[EntityFunctionalStatus:2318590] loss_of_function of HYAL1 mutants [lysosomal lumen]
eventOf	[Pathway:R-HSA-9953097] MPS IX - Natowicz syndrome (CS/DS degradation) - Homo sapiens
input	[DefinedSet:R-ALL-2065257] Chondroitin chains [lysosomal lumen] [SimpleEntity:R-ALL-1605715] H2O [lysosomal lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2318602] Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective HYAL1 does not hydrolyse Chondroitin chains
normalReaction	[Reaction:R-HSA-1793209] HYAL1-4 hydrolyze chondroitin 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-2318585
summation	[Summation:2318594] Hyaluronidase 1 (HYAL1) hydrolyses 1-4 linkages between GalN...
updateTrackers	[UpdateTracker:9779733] Update Tracker - [FailedReaction:2318585] Defective HYAL1 does not hydrolyse Chondroitin chains - v64:[add_removeInput, modifyText] [UpdateTracker:9777942] Update Tracker - [FailedReaction:2318585] Defective HYAL1 does not hydrolyse Chondroitin chains - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9779733] Update Tracker - [FailedReaction:2318585] Defective HYAL1 does not hydrolyse Chondroitin chains - v64:[add_removeInput, modifyText] [UpdateTracker:9777942] Update Tracker - [FailedReaction:2318585] Defective HYAL1 does not hydrolyse Chondroitin chains - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-9953097] MPS IX - Natowicz syndrome (CS/DS degradation)

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