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Details on Person Defective GCLC does not ligate L-Glu to L-Cys
| Class:Id | FailedReaction:5602892 |
| _displayName | Defective GCLC does not ligate L-Glu to L-Cys |
| _doRelease | TRUE |
| _timestamp | 2015-06-02 02:07:34 |
| authored | [InstanceEdit:5602968] Jassal, Bijay, 2014-06-25 |
| catalystActivity | [CatalystActivity:9631843] glutamate-cysteine ligase activity of GCLC mutants:GCLM [cytosol] |
| compartment | [Compartment:70101] cytosol |
| created | [InstanceEdit:5602968] Jassal, Bijay, 2014-06-25 |
| disease | [Disease:5602914] hemolytic anemia |
| edited | [InstanceEdit:5602968] Jassal, Bijay, 2014-06-25 |
| entityFunctionalStatus | [EntityFunctionalStatus:5602956] loss_of_function of GCLC mutants:GCLM [cytosol] |
| input | [SimpleEntity:113592] ATP [cytosol] [SimpleEntity:111707] L-Cys [cytosol] [SimpleEntity:29404] L-Glu [cytosol] |
| isChimeric | 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 |
| modified | [InstanceEdit:5603083] Jassal, Bijay, 2014-06-27 [InstanceEdit:5622022] Jassal, Bijay, 2014-09-08 [InstanceEdit:5627273] Jassal, Bijay, 2014-10-17 [InstanceEdit:5633253] Matthews, Lisa, 2014-10-31 [InstanceEdit:5634120] Jassal, Bijay, 2014-11-03 [InstanceEdit:5635755] Matthews, Lisa, 2014-11-07 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
| name | Defective GCLC does not ligate L-Glu to L-Cys |
| normalReaction |
|
| releaseDate | 2014-12-11 |
| reviewed | [InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03 |
| reviewStatus | [ReviewStatus:9821382] five stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:6781755] R-HSA-5602892.3 |
| summation | [Summation:5602911] Gamma-glutamylcysteine ligase (GCL) catalyses the first and ... |
| systematicName | GCLC mutants do not ligate L-Glu to L-Cys |
| (hasEvent) | [Pathway:5578999] Defective GCLC causes HAGGSD [Homo sapiens] |
| (updatedInstance) | [_UpdateTracker:9778464] Update Tracker - [FailedReaction:5602892] Defective GCLC does not ligate L-Glu to L-Cys - v68:[addCatalystActivity] |
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