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Schema
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FailedReaction
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Entries
Defective ALG6 does not add glucose to the N-glycan precursor
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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:453088] integral component of lumenal side of endoplasmic reticulum membrane
created
[InstanceEdit:4724288] Jassal, B, 2013-10-23
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 [integral component of lumenal side of endoplasmic reticulum membrane]
[SimpleEntity:R-ALL-532542] DbGP [integral component of 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
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
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)
Referrals
(hasEvent)
[Pathway:R-HSA-4724289] Defective ALG6 causes CDG-1c
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