Reactome | Defective GCLC does not ligate L-Glu to L-Cys

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Defective GCLC does not ligate L-Glu to L-Cys Show undefined attributes

authored	[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
catalystActivity	[CatalystActivity:9631843] glutamate-cysteine ligase activity of GCLC mutants:GCLM [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
crossReference	[DatabaseIdentifier:12020867] Mondo:0003664
dbId	5602892
disease	[Disease:5602914] hemolytic anemia
displayName	Defective GCLC does not ligate L-Glu to L-Cys
edited	[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
entityFunctionalStatus	[EntityFunctionalStatus:5602956] loss_of_function of GCLC mutants:GCLM [cytosol]
eventOf	[Pathway:R-HSA-5578999] Defective GCLC causes HAGGSD - Homo sapiens
input	[SimpleEntity:R-ALL-113592] ATP [cytosol] [SimpleEntity:R-ALL-111707] L-Cys [cytosol] [SimpleEntity:R-ALL-29404] L-Glu [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5602919] The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency [LiteratureReference:5602996] A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia [LiteratureReference:5602991] A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective GCLC does not ligate L-Glu to L-Cys
normalReaction	[Reaction:R-HSA-174367] GCL ligates L-Glu to L-Cys
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5602892
summation	[Summation:5602911] Gamma-glutamylcysteine ligase (GCL) catalyses the first and ...
systematicName	GCLC mutants do not ligate L-Glu to L-Cys
updateTrackers	[UpdateTracker:9778464] Update Tracker - [FailedReaction:5602892] Defective GCLC does not ligate L-Glu to L-Cys - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778464] Update Tracker - [FailedReaction:5602892] Defective GCLC does not ligate L-Glu to L-Cys - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5578999] Defective GCLC causes HAGGSD

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