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Schema
>
FailedReaction
>
Entries
Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker
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authored
[InstanceEdit:4420338] Jassal, B, 2013年09月03日
catalystActivity
[CatalystActivity:9631723] galactosylxylosylprotein 3-beta-galactosyltransferase activity of B3GALT6 mutants [Golgi membrane]
category
transition
compartment
[Compartment:17963] Golgi lumen
[Compartment:20699] Golgi membrane
created
[InstanceEdit:4420338] Jassal, B, 2013年09月03日
crossReference
[DatabaseIdentifier:11945026] Mondo:0100510
[DatabaseIdentifier:11945032] Mondo:0020066
dbId
4420365
disease
[Disease:3656228] Ehlers-Danlos syndrome
[Disease:3656231] spondyloepimetaphyseal dysplasia
displayName
Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker
edited
[InstanceEdit:4420338] Jassal, B, 2013年09月03日
entityFunctionalStatus
[EntityFunctionalStatus:4420360] loss_of_function of B3GALT6 mutants [Golgi membrane]
eventOf
[Pathway:R-HSA-4420332] Defective B3GALT6 causes EDSP2 and SEMDJL1 - Homo sapiens
input
[DefinedSet:R-HSA-2064058] Gal-Xyl-proteins [Golgi lumen]
[SimpleEntity:R-ALL-735682] UDP-Gal [Golgi lumen]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:1889988] Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene
[LiteratureReference:4420321] Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
[LiteratureReference:4420353] Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker
normalReaction
[Reaction:R-HSA-1889978] B3GALT6 transfers Gal to the tetrasaccharide linker
releaseDate
2015年09月22日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5607064] Spillmann, Dorothe, 2014年07月09日
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-4420365
summation
[Summation:4420364] Beta-1,3-galactosyltransferase 6 (B3GALT6) normally transfer...
updateTrackers
[UpdateTracker:9778235] Update Tracker - [FailedReaction:4420365] Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker - v68:[addCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9778235] Update Tracker - [FailedReaction:4420365] Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker - v68:[addCatalystActivity]
(hasEvent)
[Pathway:R-HSA-4420332] Defective B3GALT6 causes EDSP2 and SEMDJL1
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