Reactome | FVIIIa variant:FIXa does not convert FX to the active FXa

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FVIIIa variant:FIXa does not convert FX to the active FXa Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
catalystActivity	[CatalystActivity:9668366] serine-type endopeptidase activity of FVIIIa variant:FIXa [plasma membrane]
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:9668368] Shamovsky, Veronica, 2019-11-25
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9668365
disease	[Disease:9661959] factor VIII deficiency
displayName	FVIIIa variant:FIXa does not convert FX to the active FXa
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9668371] loss_of_function of FVIIIa variant:FIXa [plasma membrane]
eventOf	[Pathway:R-HSA-9672396] Defective cofactor function of FVIIIa variant - Homo sapiens
input	20 × [SimpleEntity:R-ALL-74112] Ca2+ [extracellular region] [Complex:R-HSA-140739] factor X [extracellular region]
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9668349] Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex [LiteratureReference:9668373] Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function [LiteratureReference:9662324] The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	FVIIIa variant:FIXa does not convert FX to the active FXa
normalReaction	[Reaction:R-HSA-158164] factor X -> factor Xa + factor X activation peptide (VIIIa:IXa catalyst)
releaseDate	2020-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9668365
summation	[Summation:9668356] The coagulation factor VIII (FVIII) in its activated form, F...

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[Pathway:R-HSA-9672396] Defective cofactor function of FVIIIa variant

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