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Details on Person Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol
| Class:Id | FailedReaction:5623588 |
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| _displayName | Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol |
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| _doRelease | TRUE |
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| _timestamp | 2015-09-04 20:50:20 |
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| authored | [InstanceEdit:5623578] Jassal, Bijay, 2014-09-17 |
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| catalystActivity | [CatalystActivity:9631844] sodium:potassium:chloride symporter activity of SLC12A1 mutants [plasma membrane] |
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| compartment | [Compartment:984] extracellular region
[Compartment:876] plasma membrane |
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| created | [InstanceEdit:5623578] Jassal, Bijay, 2014-09-17 |
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| disease | [Disease:5623577] Bartter disease |
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| edited | [InstanceEdit:5623578] Jassal, Bijay, 2014-09-17 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5623562] loss_of_function of SLC12A1 mutants [plasma membrane] |
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| input | [SimpleEntity:188972] Cl- [extracellular region]
[SimpleEntity:188972] Cl- [extracellular region]
[SimpleEntity:74126] K+ [extracellular region]
[SimpleEntity:74113] Na+ [extracellular region] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:426143] Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
[LiteratureReference:5623569] A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect
[LiteratureReference:5623570] Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome |
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| modified | [InstanceEdit:5623756] Jassal, Bijay, 2014-09-19
[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 SLC12A1 does not cotransport Na+, K+, 2Cl- 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:6797131] R-HSA-5623588.3 |
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| summation | [Summation:5623584] The solute carrier family 12 member 1 (SLC12A1, NKCC2) is a ... |
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| (hasEvent) | [Pathway:5619104] Defective SLC12A1 causes Bartter syndrome 1 (BS1) [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778112] Update Tracker - [FailedReaction:5623588] Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol - v68:[addCatalystActivity] |
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