Reactome | Defective ALG2 does not transfer a second Man to N-glycan precursor

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Defective ALG2 does not transfer a second Man to N-glycan precursor Show undefined attributes

authored	[InstanceEdit:4549381] Jassal, B, 2013-09-12
catalystActivity	[CatalystActivity:9631942] alpha-1,3-mannosyltransferase activity of ALG2 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:453087] integral component of cytoplasmic side of endoplasmic reticulum membrane [Compartment:70101] cytosol [Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:4549381] Jassal, B, 2013-09-12
dbId	4549368
disease	[Disease:3781892] congenital disorder of glycosylation type I [Disease:5633237] congenital myasthenic syndrome
displayName	Defective ALG2 does not transfer a second Man to N-glycan precursor
edited	[InstanceEdit:4549381] Jassal, B, 2013-09-12
entityFunctionalStatus	[EntityFunctionalStatus:4549390] loss_of_function of ALG2 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-4549349] Defective ALG2 causes CDG-1i - Homo sapiens
input	[SimpleEntity:R-ALL-162860] GDP-Man [cytosol] [SimpleEntity:R-ALL-449283] MDCDD [integral component of cytoplasmic side of endoplasmic reticulum membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:449330] A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ALG2 does not transfer a second Man to N-glycan precursor
normalReaction	[Reaction:R-HSA-446208] Addition of a second mannose to the N-glycan precursor by ALG2
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-4549368
summation	[Summation:4549378] Alpha 1,3/1,6 mannosyltransferase ALG2 (ALG2) is a bifunctio...
systematicName	ALG2 G348Dfs*26 does not transfer Man to MDCDD

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[Pathway:R-HSA-4549349] Defective ALG2 causes CDG-1i

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