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Details on Person Defective SLC2A9 does not transport Fru, Glc, urate
| Class:Id | FailedReaction:5638209 |
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| _displayName | Defective SLC2A9 does not transport Fru, Glc, urate |
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| _doRelease | TRUE |
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| _timestamp | 2015-09-04 20:50:39 |
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| authored | [InstanceEdit:5638236] Jassal, Bijay, 2014-11-13 |
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| catalystActivity | [CatalystActivity:9631765] transmembrane transporter activity of SLC2A9 mutants [plasma membrane] |
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| compartment | [Compartment:984] extracellular region
[Compartment:876] plasma membrane |
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| created | [InstanceEdit:5638236] Jassal, Bijay, 2014-11-13 |
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| disease | [Disease:5638228] renal tubular transport disease |
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| edited | [InstanceEdit:5638236] Jassal, Bijay, 2014-11-13 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5638221] loss_of_function of SLC2A9 mutants [plasma membrane] |
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| input | [DefinedSet:429078] Fru,Glc,urate [extracellular region] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5638297] Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia
[LiteratureReference:5638216] Homozygous SLC2A9 mutations cause severe renal hypouricemia
[LiteratureReference:5638259] Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2
[LiteratureReference:5638175] Acute kidney injury in two children caused by renal hypouricaemia type 2
[LiteratureReference:5638279] Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review |
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| modified | [InstanceEdit:5663019] Jassal, Bijay, 2015-01-14
[InstanceEdit:6789777] Jassal, Bijay, 2015-08-04
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective SLC2A9 does not transport Fru, Glc, urate |
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| normalReaction |
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| releaseDate | 2015-09-22 |
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| releaseStatus | NEW |
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| reviewed | [InstanceEdit:6789776] Broer, Stefan, 2015-08-04 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:6797152] R-HSA-5638209.3 |
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| summation | [Summation:5638284] The human SLC2A9 gene encodes the class II facilitative gluc... |
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| (hasEvent) | [Pathway:5619047] Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778459] Update Tracker - [FailedReaction:5638209] Defective SLC2A9 does not transport Fru, Glc, urate - v68:[addCatalystActivity] |
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