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Schema
>
FailedReaction
>
Entries
Defective POMT2 does not transfer Man from Dol-P-Man to DAG1
Show undefined attributes
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authored
[InstanceEdit:5615549] Jassal, Bijay, 2014-07-25
catalystActivity
[CatalystActivity:9631788] dolichyl-phosphate-mannose-protein mannosyltransferase activity of POMT1:POMT2 mutants [endoplasmic reticulum membrane]
category
transition
compartment
[Compartment:70101] cytosol
[Compartment:5263266] cytoplasmic side of endoplasmic reticulum membrane
created
[InstanceEdit:5615549] Jassal, Bijay, 2014-07-25
crossReference
[DatabaseIdentifier:12020896] Mondo:0013159
dbId
5615556
disease
[Disease:5615537] muscular dystrophy-dystroglycanopathy
displayName
Defective POMT2 does not transfer Man from Dol-P-Man to DAG1
edited
[InstanceEdit:5615549] Jassal, Bijay, 2014-07-25
entityFunctionalStatus
[EntityFunctionalStatus:5617046] loss_of_function of POMT1:POMT2 mutants [endoplasmic reticulum membrane]
eventOf
[Pathway:R-HSA-5083629] Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 - Homo sapiens
input
[EntityWithAccessionedSequence:R-HSA-5615641] DAG1(30-653) [cytosol]
[SimpleEntity:R-ALL-162681] DOLP-Man [cytoplasmic side of endoplasmic reticulum membrane]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:5617110] POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
[LiteratureReference:5617061] POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation
[LiteratureReference:5615545] Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
[LiteratureReference:5615588] Congenital muscular dystrophies: a brief review
[LiteratureReference:5615623] The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy
maxDepth
1
modified
[InstanceEdit:9910685] D'Eustachio, Peter, 2024-05-16
name
Defective POMT2 does not transfer Man from Dol-P-Man to DAG1
normalReaction
[Reaction:R-HSA-5615637] POMT1:POMT2 transfers Man from Dol-P-Man to DAG1(30-653)
releaseDate
2016-03-23
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015-12-18
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5615556
summation
[Summation:5615590] Co expression of both protein O mannosyl transferases 1 and ...
updateTrackers
[UpdateTracker:9778199] Update Tracker - [FailedReaction:5615556] Defective POMT2 does not transfer Man from Dol-P-Man to DAG1 - v68:[addCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9778199] Update Tracker - [FailedReaction:5615556] Defective POMT2 does not transfer Man from Dol-P-Man to DAG1 - v68:[addCatalystActivity]
(hasEvent)
[Pathway:R-HSA-5083629] Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
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