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Details on Person Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region

Class:Id	FailedReaction:5623806
_displayName	Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region
_doRelease	TRUE
_timestamp	2023-04-07 10:44:57
authored	[InstanceEdit:5623793] Jassal, Bijay, 2014-09-19
catalystActivity	[CatalystActivity:9631915] potassium:chloride symporter activity of SLC12A6 mutants [plasma membrane]
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5623793] Jassal, Bijay, 2014-09-19
disease	[Disease:9635395] neuropathy
edited	[InstanceEdit:5623793] Jassal, Bijay, 2014-09-19
entityFunctionalStatus	[EntityFunctionalStatus:5623783] loss_of_function of SLC12A6 mutants [plasma membrane]
input	[SimpleEntity:352022] Cl- [cytosol] [SimpleEntity:29804] K+ [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:426162] The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum [LiteratureReference:5623813] Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum
modified	[InstanceEdit:5625241] Jassal, Bijay, 2014-10-03 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:8940223] D'Eustachio, Peter, 2016-09-23 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 [InstanceEdit:9832762] Orlic-Milacic, Marija, 2023-04-07
name	Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region
normalReaction	[Reaction:426155] SLC12A4,5,6,7 cotransport K+, Cl- from cytosol to extracellular region [Homo sapiens]
releaseDate	2015-09-22
releaseStatus	NEW
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6797133] R-HSA-5623806.4
summation	[Summation:5623807] K+/Cl- cotransport is implicated not only in regulatory volu...
(hasEvent)	[Pathway:5619039] Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778315] Update Tracker - [FailedReaction:5623806] Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region - v68:[addCatalystActivity] [_UpdateTracker:9782690] Update Tracker - [FailedReaction:5623806] Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region - v59:[add_removeLiteratureReference]
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