Reactome | Defective AMN does not transport GIF:Cbl

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Defective AMN does not transport GIF:Cbl Show undefined attributes

authored	[InstanceEdit:3296483] Jassal, B, 2013-04-18
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:3296483] Jassal, B, 2013-04-18
dbId	3296477
disease	[Disease:3299649] megaloblastic anemia
displayName	Defective AMN does not transport GIF:Cbl
edited	[InstanceEdit:3296483] Jassal, B, 2013-04-18
entityFunctionalStatus	[EntityFunctionalStatus:3299660] loss_of_function of CUBN:AMN mutants [plasma membrane]
eventOf	[Pathway:R-HSA-3359462] Defective AMN causes MGA1 - Homo sapiens
input	[Complex:R-HSA-3000147] CBLIF:RCbl [extracellular region] [Complex:R-HSA-5654975] CUBN:AMN mutants [plasma membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3296463] Idiopathic chronic megaloblastic anemia in children [LiteratureReference:3296481] Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome [LiteratureReference:3000249] Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective AMN does not transport GIF:Cbl
normalReaction	[Reaction:R-HSA-3000103] CUBN:AMN binds CBLIF:RCbl
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4093346] Watkins, D, 2013-08-14
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-3296477
summation	[Summation:3296473] In preparation for internalisation, the gastric intrinsic fa...

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[Pathway:R-HSA-3359462] Defective AMN causes MGA1

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