Reactome | Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)

Schema > Pathway > Entries

authored	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
created	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
crossReference	[DatabaseIdentifier:12020994] Mondo:0006510
dbId	5619098
disease	[Disease:5638228] renal tubular transport disease
displayName	Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
edited	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
eventOf	[Pathway:R-HSA-5619102] SLC transporter disorders - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5638222] Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5638197] GLUT2 mutations, translocation, and receptor function in diet sugar managing [LiteratureReference:5638235] The role of fructose transporters in diseases linked to excessive fructose intake
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
normalPathway	[Pathway:R-HSA-8963676] Intestinal absorption
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5619098
summation	[Summation:5638185] The reversible facilitated diffusion of fructose, galactose,...
updateTrackers	[UpdateTracker:9778191] Update Tracker - [Pathway:5619098] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) - v68:[updateContainedRLE]

(updatedInstance)	[UpdateTracker:9778191] Update Tracker - [Pathway:5619098] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5619102] SLC transporter disorders

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