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Defective MPDU1 does not promote transfer of Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1 by ALG12 Show undefined attributes

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authored

[InstanceEdit:4686999] Jassal, B, 2013年10月15日

category transition

compartment

created [InstanceEdit:4686999] Jassal, B, 2013年10月15日

crossReference

[DatabaseIdentifier:11945016] Mondo:0005500

dbId 4686998

disease

[Disease:3781892] congenital disorder of glycosylation type I

displayName Defective MPDU1 does not promote transfer of Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1 by ALG12

edited

[InstanceEdit:4686999] Jassal, B, 2013年10月15日

entityFunctionalStatus

[EntityFunctionalStatus:4717402] loss_of_function of MPDU1 mutants [endoplasmic reticulum membrane]

eventOf

[Pathway:R-HSA-4687000] Defective MPDU1 causes CDG-1f - Homo sapiens

input

isChimeric false

isInDisease true

isInferred false

literatureReference

maxDepth 1

modified [InstanceEdit:9910684] D'Eustachio, Peter, 2024年05月16日

name

Defective MPDU1 does not promote transfer of Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1 by ALG12

normalReaction [Reaction:R-HSA-446198] ALG12 transfers Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1

regulatedBy

[PositiveRegulation:9631845] Positive regulation by 'MPDU1 mutants [endoplasmic reticulum membrane]'

releaseDate 2014年12月11日

reviewStatus [ReviewStatus:9821382] five stars

reviewed

[InstanceEdit:5633220] Belaya, Katsiaryna, 2014年10月31日

schemaClass FailedReaction

species

[Species:48887] Homo sapiens

stId R-HSA-4686998

summation

[Summation:4717414] Mannose-P-dolichol utilisation defect 1 protein (MPDU1) is r...

systematicName MPDU1 mutants do not transfer Man from DOLPman to ALG substrates

updateTrackers

Referrals

(updatedInstance)

(hasEvent)

[Pathway:R-HSA-4687000] Defective MPDU1 causes CDG-1f

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