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Details on Person Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol
| Class:Id | FailedReaction:5623705 |
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| _displayName | Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol |
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| _doRelease | TRUE |
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| _timestamp | 2015-09-04 20:50:21 |
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| authored | [InstanceEdit:5623793] Jassal, Bijay, 2014-09-19 |
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| catalystActivity | [CatalystActivity:9631846] sodium:chloride symporter activity of SLC12A3 mutants [plasma membrane] |
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| compartment | [Compartment:984] extracellular region
[Compartment:876] plasma membrane |
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| created | [InstanceEdit:5623756] Jassal, Bijay, 2014-09-19 |
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| disease | [Disease:5623757] Gitelman syndrome |
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| edited | [InstanceEdit:5623793] Jassal, Bijay, 2014-09-19 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5623739] loss_of_function of SLC12A3 mutants [plasma membrane] |
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| input | [SimpleEntity:188972] Cl- [extracellular region]
[SimpleEntity:74113] Na+ [extracellular region] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:426108] Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
[LiteratureReference:5623692] Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome
[LiteratureReference:5623701] Phosphorylation regulates NCC stability and transporter activity in vivo |
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| modified | [InstanceEdit:5625241] Jassal, Bijay, 2014-10-03
[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 SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol |
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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:6797132] R-HSA-5623705.3 |
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| summation | [Summation:5623702] The SLC12A3 gene encodes for the Thiazide-sensitive sodium-c... |
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| (hasEvent) | [Pathway:5619087] Defective SLC12A3 causes Gitelman syndrome (GS) [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9777931] Update Tracker - [FailedReaction:5623705] Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol - v68:[addCatalystActivity] |
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