Reactome | Defective ALG6 does not add glucose to the N-glycan precursor

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Defective ALG6 does not add glucose to the N-glycan precursor Show undefined attributes

authored	[InstanceEdit:4724288] Jassal, B, 2013-10-23
catalystActivity	[CatalystActivity:9631762] dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity of ALG6 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:5263265] lumenal side of endoplasmic reticulum membrane
created	[InstanceEdit:4724288] Jassal, B, 2013-10-23
crossReference	[DatabaseIdentifier:12020873] Mondo:0005500
dbId	4724291
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	Defective ALG6 does not add glucose to the N-glycan precursor
edited	[InstanceEdit:4724288] Jassal, B, 2013-10-23
entityFunctionalStatus	[EntityFunctionalStatus:4724294] loss_of_function of ALG6 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-4724289] Defective ALG6 causes CDG-1c - Homo sapiens
input	[SimpleEntity:R-ALL-449371] (GlcNAc)2 (Man)9 (PP-Dol)1 [lumenal side of endoplasmic reticulum membrane] [SimpleEntity:R-ALL-532542] DbGP [lumenal side of endoplasmic reticulum membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:4724286] Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic [LiteratureReference:449643] A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic [LiteratureReference:4724297] Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic [LiteratureReference:449898] Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient [LiteratureReference:5615625] ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
maxDepth	1
modified	[InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16
name	Defective ALG6 does not add glucose to the N-glycan precursor
normalReaction	[Reaction:R-HSA-446202] Addition of the first glucose to the N-glycan precursor by ALG6
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-4724291
summation	[Summation:4724292] Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransfe...
systematicName	ALG6 mutants do not transfer Glc to (GlcNAc)2 (Man)9 (PP-Dol)
updateTrackers	[UpdateTracker:9778332] Update Tracker - [FailedReaction:4724291] Defective ALG6 does not add glucose to the N-glycan precursor - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778332] Update Tracker - [FailedReaction:4724291] Defective ALG6 does not add glucose to the N-glycan precursor - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-4724289] Defective ALG6 causes CDG-1c

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