Reactome | Defective ABCB4 does not transport PC from plasma membrane to extracellular region

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Defective ABCB4 does not transport PC from plasma membrane to extracellular region Show undefined attributes

authored	[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
catalystActivity	[CatalystActivity:9631743] phospholipid transporter activity of ABCB4 mutants [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:876] plasma membrane
created	[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
dbId	5678749
disease	[Disease:5678903] cholelithiasis [Disease:5678502] intrahepatic cholestasis
displayName	Defective ABCB4 does not transport PC from plasma membrane to extracellular region
edited	[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
entityFunctionalStatus	[EntityFunctionalStatus:5678763] loss_of_function of ABCB4 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-5678771] Defective ABCB4 causes PFIC3, ICP3 and GBD1 - Homo sapiens
input	[SimpleEntity:R-ALL-113592] ATP [cytosol] [SimpleEntity:R-ALL-29356] H2O [cytosol] [SimpleEntity:R-ALL-429802] PC [plasma membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5678932] Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis [LiteratureReference:5678890] Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) [LiteratureReference:5678897] Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy [LiteratureReference:5678815] Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking [LiteratureReference:5678949] ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy [LiteratureReference:5678882] ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults [LiteratureReference:5678927] MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCB4 does not transport PC from plasma membrane to extracellular region
normalReaction	[Reaction:R-HSA-5678706] ABCB4 transports PC from plasma membrane to extracellular region
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5690296] Moitra, Karobi, 2015-04-28
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5678749
summation	[Summation:5678849] Multidrug resistance protein 3 (ATP-binding cassette sub-fam...

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[Pathway:R-HSA-5678771] Defective ABCB4 causes PFIC3, ICP3 and GBD1

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