Reactome | Defective ABCG8 causes GBD4 and sitosterolemia

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Defective ABCG8 causes GBD4 and sitosterolemia Show undefined attributes

authored	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
created	[InstanceEdit:5679074] Jassal, Bijay, 2015-03-02
crossReference	[DatabaseIdentifier:12020971] Mondo:0005311
dbId	5679090
disease	[Disease:5678903] cholelithiasis [Disease:5679071] lipid metabolism disorder [Disease:5684896] atherosclerosis
displayName	Defective ABCG8 causes GBD4 and sitosterolemia
edited	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
eventOf	[Pathway:R-HSA-5619084] ABC transporter disorders - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5679101] Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5679070] A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease [LiteratureReference:5679098] Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease [LiteratureReference:5679084] ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis [LiteratureReference:265544] Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters [LiteratureReference:5679162] Non-cholesterol sterols and cholesterol metabolism in sitosterolemia [LiteratureReference:5679149] ABCG5/ABCG8 in cholesterol excretion and atherosclerosis
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective ABCG8 causes GBD4 and sitosterolemia Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
normalPathway	[Pathway:R-HSA-382556] ABC-family protein mediated transport
releaseDate	2015-12-15
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5679090
summation	[Summation:5679161] ATP-binding cassette sub-family G member 8 (ABCG8 aka sterol...
updateTrackers	[UpdateTracker:9778380] Update Tracker - [Pathway:5679090] Defective ABCG8 causes GBD4 and sitosterolemia - v68:[updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9778380] Update Tracker - [Pathway:5679090] Defective ABCG8 causes GBD4 and sitosterolemia - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5619084] ABC transporter disorders

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