Reactome | ABCB4 mutants [plasma membrane]

Schema > DefinedSet > Entries

catalystActivities	[CatalystActivity:9631743] phospholipid transporter activity of ABCB4 mutants [plasma membrane]
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
dbId	5678836
disease	[Disease:5678903] cholelithiasis [Disease:5678502] intrahepatic cholestasis
displayName	ABCB4 mutants [plasma membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-5678948] ABCB4 A546D [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678777] ABCB4 P1161S [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678839] ABCB4 R144* [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678946] ABCB4 R545G [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678907] ABCB4 R590Q [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678748] ABCB4 R957* [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678865] ABCB4 T175V [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678814] ABCB4 V571Dfs*16 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5678826] ABCB4 Y403H [plasma membrane] - Homo sapiens
inDisease	true
name	ABCB4 mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5678836

(diseaseEntity)	[EntityFunctionalStatus:5678763] loss_of_function of ABCB4 mutants [plasma membrane]
(physicalEntity)	[CatalystActivity:9631743] phospholipid transporter activity of ABCB4 mutants [plasma membrane]