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

Class:Id	FailedReaction:5679145
_displayName	Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region
_doRelease	TRUE
_timestamp	2015-11-20 15:13:10
authored	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
catalystActivity	[CatalystActivity:9631944] ABC-type sterol transporter activity of mutant ABCG5:ABCG8 [plasma membrane]
compartment	[Compartment:876] plasma membrane [Compartment:70101] cytosol [Compartment:984] extracellular region
created	[InstanceEdit:5679074] Jassal, Bijay, 2015-03-02
disease	[Disease:5679071] lipid metabolism disorder
edited	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
entityFunctionalStatus	[EntityFunctionalStatus:5679136] loss_of_function of mutant ABCG5:ABCG8 [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:5679134] Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption [LiteratureReference:5679077] Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia [LiteratureReference:5679148] Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene
modified	[InstanceEdit:5684033] Jassal, Bijay, 2015-03-18 [InstanceEdit:6797620] Jassal, Bijay, 2015-09-15 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCG5 (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:6812725] R-HSA-5679145.3
summation	[Summation:5679114] ATP-binding cassette sub-family G member 5 (ABCG5 aka sterol...
(hasEvent)	[Pathway:5679096] Defective ABCG5 causes sitosterolemia [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778283] Update Tracker - [FailedReaction:5679145] Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region - v68:[addCatalystActivity]
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