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Details on Person Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+

Class:Id	FailedReaction:5625841
_displayName	Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+
_doRelease	TRUE
_timestamp	2015-09-04 20:50:30
authored	[InstanceEdit:5625839] Jassal, Bijay, 2014-10-08
catalystActivity	[CatalystActivity:9631943] calcium, potassium:sodium antiporter activity of SLC24A1 F538Cfs*23 [plasma membrane]
compartment	[Compartment:70101] cytosol [Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5625839] Jassal, Bijay, 2014-10-08
disease	[Disease:2514866] congenital stationary night blindness
edited	[InstanceEdit:5625839] Jassal, Bijay, 2014-10-08
entityFunctionalStatus	[EntityFunctionalStatus:5625840] loss_of_function of SLC24A1 F538Cfs*23 [plasma membrane]
input	[SimpleEntity:74016] Ca2+ [cytosol] [SimpleEntity:29804] K+ [cytosol] [SimpleEntity:74113] Na+ [extracellular region] [SimpleEntity:74113] Na+ [extracellular region] [SimpleEntity:74113] Na+ [extracellular region] [SimpleEntity:74113] Na+ [extracellular region]
isChimeric	FALSE
literatureReference	[LiteratureReference:3223208] A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness
modified	[InstanceEdit:5625844] Jassal, Bijay, 2014-10-08 [InstanceEdit:5667166] Jassal, Bijay, 2015-01-23 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+
normalReaction	[Reaction:2514891] SLC24A1 exchanges 4Na+ for Ca2+, K+ [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:6797143] R-HSA-5625841.3
summation	[Summation:5625838] SLC24A1 encodes an exchanger protein NCKX1 which is the most...
(hasEvent)	[Pathway:5619077] Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778158] Update Tracker - [FailedReaction:5625841] Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ - v68:[addCatalystActivity]
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