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Details on Person Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region

Class:Id	FailedReaction:5679101
_displayName	Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region
_doRelease	TRUE
_timestamp	2015-11-20 15:13:09
authored	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
catalystActivity	[CatalystActivity:9631770] ABC-type sterol transporter activity of mutant ABCG8:ABCG5 [plasma membrane]
compartment	[Compartment:876] plasma membrane [Compartment:70101] cytosol [Compartment:984] extracellular region
created	[InstanceEdit:5679074] Jassal, Bijay, 2015-03-02
disease	[Disease:5678903] cholelithiasis [Disease:5679071] lipid metabolism disorder [Disease:5684896] atherosclerosis
edited	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
entityFunctionalStatus	[EntityFunctionalStatus:5679152] loss_of_function of mutant ABCG8:ABCG5 [plasma membrane]
input	[SimpleEntity:113592] ATP [cytosol] [DefinedSet:265784] sterols [cytosol] [SimpleEntity:29356] H2O [cytosol]
literatureReference	[LiteratureReference:265544] Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters [LiteratureReference:5679070] A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
modified	[InstanceEdit:5684033] Jassal, Bijay, 2015-03-18 [InstanceEdit:5684903] Jassal, Bijay, 2015-03-24 [InstanceEdit:6797620] Jassal, Bijay, 2015-09-15 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region
normalReaction	[Reaction:265783] ABCG5:ABCG8 transports sterols from cytosol to extracellular region [Homo sapiens]
releaseDate	2015-12-15
releaseStatus	NEW
reviewed	[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6812724] R-HSA-5679101.3
summation	[Summation:5679160] ATP-binding cassette sub-family G member 8 (ABCG8 aka sterol...
(hasEvent)	[Pathway:5679090] Defective ABCG8 causes GBD4 and sitosterolemia [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778346] Update Tracker - [FailedReaction:5679101] Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region - v68:[addCatalystActivity]
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