Reactome | F8 variant is not secreted

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F8 variant is not secreted Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
category	transition
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9661980
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 variant is not secreted
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9661976] loss_of_function of Non-secretable F8 variant [endoplasmic reticulum lumen]
eventOf	[Pathway:R-HSA-9672397] Defective F8 secretion - Homo sapiens
input	[CandidateSet:R-HSA-9661970] Non-secretable F8 variant [endoplasmic reticulum lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9661951] Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A [LiteratureReference:9662038] Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins [LiteratureReference:9662005] Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis [LiteratureReference:9661977] Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)) [LiteratureReference:9662039] Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A [LiteratureReference:9662022] Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII [LiteratureReference:9662009] Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII [LiteratureReference:9666367] Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	F8 variant is not secreted
normalReaction	[BlackBoxEvent:R-HSA-9661625] FVIII is secreted
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-9661980
summation	[Summation:9663100] Hemophilia A (HA) is an X-linked, recessive coagulation diso...

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[Pathway:R-HSA-9672397] Defective F8 secretion