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Schema
>
FailedReaction
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Entries
Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region
Show undefined attributes
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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...
Referrals
(hasEvent)
[Pathway:R-HSA-5679096] Defective ABCG5 causes sitosterolemia
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