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Details on Person Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol

Class:Id	FailedReaction:5658163
_displayName	Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol
_doRelease	TRUE
_timestamp	2016-10-18 16:14:17
authored	[InstanceEdit:5658180] Jassal, Bijay, 2014-12-18
catalystActivity	[CatalystActivity:9631838] D-glucose:sodium symporter activity of SLC5A2 mutants [plasma membrane]
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5658180] Jassal, Bijay, 2014-12-18
disease	[Disease:5638228] renal tubular transport disease
edited	[InstanceEdit:5658180] Jassal, Bijay, 2014-12-18
entityFunctionalStatus	[EntityFunctionalStatus:5658165] loss_of_function of SLC5A2 mutants [plasma membrane]
input	[SimpleEntity:70115] Glc [extracellular region] [SimpleEntity:74113] Na+ [extracellular region]
isChimeric	FALSE
literatureReference	[LiteratureReference:429604] Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria [LiteratureReference:5658201] Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) [LiteratureReference:5658161] Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients
modified	[InstanceEdit:5663019] Jassal, Bijay, 2015-01-14 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:8942560] Jassal, Bijay, 2016-10-18 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol
normalReaction	[Reaction:429613] SLC5As, NAGLT1 cotransport Glc and Na+ from extracellular region to cytosol [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:6797170] R-HSA-5658163.4
summation	[Summation:5658164] The human gene SLC5A2 encodes a sodium-dependent glucose tra...
(hasEvent)	[Pathway:5658208] Defective SLC5A2 causes renal glucosuria (GLYS1) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9777927] Update Tracker - [FailedReaction:5658163] Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol - v68:[addCatalystActivity]
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