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Schema
>
FailedReaction
>
Entries
Defective CHST3 does not transfer SO4(2-) to chondroitin
Show undefined attributes
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authored
[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity
[CatalystActivity:9631850] chondroitin 6-sulfotransferase activity of CHST3 mutants [Golgi membrane]
category
transition
compartment
[Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen
created
[InstanceEdit:3595173] Jassal, B, 2013-05-21
dbId
3595175
disease
[Disease:3656231] spondyloepimetaphyseal dysplasia
displayName
Defective CHST3 does not transfer SO4(2-) to chondroitin
edited
[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus
[EntityFunctionalStatus:3636790] loss_of_function of CHST3 mutants [Golgi membrane]
eventOf
[Pathway:R-HSA-3595172] Defective CHST3 causes SEDCJD - Homo sapiens
input
[DefinedSet:R-HSA-2064075] chondroitin(3)-core proteins [Golgi lumen]
[SimpleEntity:R-ALL-741440] PAPS [Golgi lumen]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:3636829] Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
[LiteratureReference:3636854] Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
[LiteratureReference:3636786] Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
[LiteratureReference:3636839] Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective CHST3 does not transfer SO4(2-) to chondroitin
normalReaction
[Reaction:R-HSA-2018682] CHST3,7 transfer SO4(2-) to position 6 of GalNAc on chondroitin chains
releaseDate
2014-09-30
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-3595175
summation
[Summation:2018687] Carbohydrate sulfotransferase 3 (CHST3 also known as C6ST-1)...
Referrals
(hasEvent)
[Pathway:R-HSA-3595172] Defective CHST3 causes SEDCJD
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