Reactome | Defective ABCC6 does not transport organic anion from cytosol to extracellular region

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Defective ABCC6 does not transport organic anion from cytosol to extracellular region Show undefined attributes

authored	[InstanceEdit:5690331] Jassal, Bijay, 2015-04-28
catalystActivity	[CatalystActivity:9631881] ATPase-coupled inorganic anion transmembrane transporter activity of ABCC6 R1141* [plasma membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:876] plasma membrane
created	[InstanceEdit:5690331] Jassal, Bijay, 2015-04-28
dbId	5690340
disease	[Disease:5690334] pseudoxanthoma elasticum
displayName	Defective ABCC6 does not transport organic anion from cytosol to extracellular region
edited	[InstanceEdit:5690331] Jassal, Bijay, 2015-04-28
entityFunctionalStatus	[EntityFunctionalStatus:5690366] loss_of_function of ABCC6 R1141* [plasma membrane]
eventOf	[Pathway:R-HSA-5690338] Defective ABCC6 causes PXE - Homo sapiens
input	[SimpleEntity:R-ALL-113592] ATP [cytosol] [SimpleEntity:R-ALL-29356] H2O [cytosol] [SimpleEntity:R-ALL-1454930] organic anion [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5690333] Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum [LiteratureReference:5690351] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum [LiteratureReference:5690347] Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ABCC6 does not transport organic anion from cytosol to extracellular region
normalReaction	[Reaction:R-HSA-1454916] The ABCC family mediates organic anion transport
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-5690340
summation	[Summation:5690352] The multidrug resistance associated protein (MRPs) subfamily...

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[Pathway:R-HSA-5690338] Defective ABCC6 causes PXE

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