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Details on Person Defective GLB1 does not hydrolyse linker chain(2)

Class:Id	FailedReaction:9036061
_displayName	Defective GLB1 does not hydrolyse linker chain(2)
_doRelease	TRUE
_timestamp	2018-11-08 19:29:00
authored	[InstanceEdit:2265535] Jassal, B, 2012-05-21
catalystActivity	[CatalystActivity:9631857] beta-galactosidase activity of GLB1 mutants [lysosomal lumen]
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2265535] Jassal, B, 2012-05-21
disease	[Disease:2226052] mucopolysaccharidosis
edited	[InstanceEdit:2265535] Jassal, B, 2012-05-21
entityFunctionalStatus	[EntityFunctionalStatus:2265532] loss_of_function of GLB1 mutants [lysosomal lumen]
input	[SimpleEntity:1605715] H2O [lysosomal lumen] [SimpleEntity:2090075] linker chain(2) [lysosomal lumen] [SimpleEntity:1605715] H2O [lysosomal lumen]
isChimeric	FALSE
literatureReference	[LiteratureReference:2285513] Clinical and molecular analysis of a Japanese boy with Morquio B disease [LiteratureReference:1605739] Human beta-galactosidase gene mutations in morquio B disease [LiteratureReference:2285509] Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies [LiteratureReference:2285540] Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
modified	[InstanceEdit:2265569] Jassal, B, 2012-05-21 [InstanceEdit:2285516] Jassal, B, 2012-05-28 [InstanceEdit:2318591] Jassal, B, 2012-06-14 [InstanceEdit:2318607] Jassal, B, 2012-06-14 [InstanceEdit:2318608] Jassal, B, 2012-06-14 [InstanceEdit:2318609] Jassal, B, 2012-06-14 [InstanceEdit:2326769] Jassal, B, 2012-06-19 [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:9628509] D'Eustachio, Peter, 2018-11-08 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective GLB1 does not hydrolyse linker chain(2)
normalReaction	[Reaction:2090079] GLB1 hydrolyses linker chain(2) [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:9036063] R-HSA-9036061.4
summation	[Summation:9036062] Defects in beta-galactosidase (GLB1, MIM:611458) result in g...
(hasEvent)	[Pathway:9953111] MPS IV - Morquio syndrome B (CS/DS degradation) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778684] Update Tracker - [FailedReaction:9036061] Defective GLB1 does not hydrolyse linker chain(2) - v68:[addCatalystActivity]
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