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Details on Person Defective GALK1 does not phosphorylate Gal
| Class:Id | FailedReaction:5610026 |
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| _displayName | Defective GALK1 does not phosphorylate Gal |
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| _doRelease | TRUE |
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| _timestamp | 2015-05-25 03:54:14 |
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| authored | [InstanceEdit:5610019] Jassal, Bijay, 2014-07-21 |
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| catalystActivity | [CatalystActivity:9631933] galactokinase activity of GALK1 mutants [cytosol] |
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| compartment | [Compartment:70101] cytosol |
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| created | [InstanceEdit:5610019] Jassal, Bijay, 2014-07-21 |
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| disease | [Disease:5610025] galactokinase deficiency |
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| edited | [InstanceEdit:5610019] Jassal, Bijay, 2014-07-21 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5610001] loss_of_function of GALK1 mutants [cytosol] |
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| input | [SimpleEntity:113592] ATP [cytosol]
[SimpleEntity:29590] Gal [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5678631] Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts
[LiteratureReference:5678634] A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
[LiteratureReference:5678602] Novel mutations in 13 probands with galactokinase deficiency
[LiteratureReference:5678615] Galactokinase deficiency in a patient with congenital hyperinsulinism
[LiteratureReference:5610031] Clinical features of galactokinase deficiency: a review of the literature
[LiteratureReference:5678605] Functional analysis of disease-causing mutations in human galactokinase |
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| modified | [InstanceEdit:5678623] Jassal, Bijay, 2015-02-25
[InstanceEdit:5678668] Jassal, Bijay, 2015-02-25
[InstanceEdit:5678680] Jassal, Bijay, 2015-02-25
[InstanceEdit:5678682] Jassal, Bijay, 2015-02-25
[InstanceEdit:5690643] Jassal, Bijay, 2015-04-30
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective GALK1 does not phosphorylate Gal |
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| normalReaction |
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| releaseDate | 2015-06-17 |
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| releaseStatus | NEW |
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| reviewed | [InstanceEdit:5678669] Timson, David J, 2015-02-25 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:5695937] R-HSA-5610026.3 |
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| summation | [Summation:5610045] Cytosolic galactokinase (GALK1) catalyses the first step in ... |
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| (hasEvent) | [Pathway:5609976] Defective GALK1 causes GALCT2 [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778122] Update Tracker - [FailedReaction:5610026] Defective GALK1 does not phosphorylate Gal - v68:[addCatalystActivity] |
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