Reactome | Defective ABCC2 does not transport BMG,BDG from cytosol to extracellular region

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Defective ABCC2 does not transport BMG,BDG from cytosol to extracellular region Show undefined attributes

authored	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
catalystActivity	[CatalystActivity:9631859] bilirubin transmembrane transporter activity of ABCC2 mutants [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
dbId	5679031
disease	[Disease:5679002] Dubin-Johnson syndrome
displayName	Defective ABCC2 does not transport BMG,BDG from cytosol to extracellular region
edited	[InstanceEdit:5679023] Jassal, Bijay, 2015-03-02
entityFunctionalStatus	[EntityFunctionalStatus:5679020] loss_of_function of ABCC2 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5679001] Defective ABCC2 causes DJS - Homo sapiens
input	[SimpleEntity:R-ALL-113592] ATP [cytosol] [DefinedSet:R-ALL-5679042] BMG,BDG [cytosol] [SimpleEntity:R-ALL-29356] H2O [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:375581] Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome [LiteratureReference:5679058] Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome [LiteratureReference:5679043] Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCC2 does not transport BMG,BDG from cytosol to extracellular region
normalReaction	[Reaction:R-HSA-5679041] ABCC2 transports BMG,BDG 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-5679031
summation	[Summation:5679037] Canalicular multispecific organic anion transporter 1 (ABCC2...

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[Pathway:R-HSA-5679001] Defective ABCC2 causes DJS

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