Reactome | Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region

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Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region Show undefined attributes

authored	[InstanceEdit:5638236] Jassal, Bijay, 2014-11-13
catalystActivity	[CatalystActivity:9631909] hexose transmembrane transporter activity of SLC2A2 mutants [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:876] plasma membrane
created	[InstanceEdit:5638236] Jassal, Bijay, 2014-11-13
crossReference	[DatabaseIdentifier:12020994] Mondo:0006510
dbId	5638222
disease	[Disease:5638228] renal tubular transport disease
displayName	Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region
edited	[InstanceEdit:5638236] Jassal, Bijay, 2014-11-13
entityFunctionalStatus	[EntityFunctionalStatus:5638282] loss_of_function of SLC2A2 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5619098] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) - Homo sapiens
input	[DefinedSet:R-ALL-189246] Fru, Gal, Glc [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5638183] Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome [LiteratureReference:189220] Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome [LiteratureReference:428815] A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region
normalReaction	[Reaction:R-HSA-189242] SLC2A2 tetramer transports Fru, Gal, Glc from cytosol to extracellular region
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5638222
summation	[Summation:5638190] The reversible facilitated diffusion of fructose, galactose,...
updateTrackers	[UpdateTracker:9778527] Update Tracker - [FailedReaction:5638222] Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778527] Update Tracker - [FailedReaction:5638222] Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5619098] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)

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