Reactome | Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region

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Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region Show undefined attributes

authored	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
catalystActivity	[CatalystActivity:9631944] sterol transporter activity of mutant ABCG5:ABCG8 [plasma membrane]
category	transition
compartment	[Compartment:876] plasma membrane [Compartment:70101] cytosol [Compartment:984] extracellular region
created	[InstanceEdit:5679074] Jassal, Bijay, 2015-03-02
dbId	5679145
disease	[Disease:5679071] lipid metabolism disorder
displayName	Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region
edited	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
entityFunctionalStatus	[EntityFunctionalStatus:5679136] loss_of_function of mutant ABCG5:ABCG8 [plasma membrane]
eventOf	[Pathway:R-HSA-5679096] Defective ABCG5 causes sitosterolemia - Homo sapiens
input	[SimpleEntity:R-ALL-113592] ATP [cytosol] [SimpleEntity:R-ALL-29356] H2O [cytosol] [DefinedSet:R-ALL-265784] sterols [cytosol]
isInDisease	true
isInferred	false
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:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region
normalReaction	[Reaction:R-HSA-265783] ABCG5:ABCG8 transports sterols from cytosol to extracellular region
releaseDate	2015-12-15
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5679145
summation	[Summation:5679114] ATP-binding cassette sub-family G member 5 (ABCG5 aka sterol...

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[Pathway:R-HSA-5679096] Defective ABCG5 causes sitosterolemia

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