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Details on Person Defective CHST3 does not transfer SO4(2-) to chondroitin

Class:IdFailedReaction:3595175
_displayNameDefective CHST3 does not transfer SO4(2-) to chondroitin
_doReleaseTRUE
_timestamp2015-02-03 17:41:30
authored[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity[CatalystActivity:9631850] chondroitin 6-sulfotransferase activity of CHST3 mutants [Golgi membrane]
compartment[Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen
created[InstanceEdit:3595173] Jassal, B, 2013-05-21
disease[Disease:3656231] spondyloepimetaphyseal dysplasia
edited[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus[EntityFunctionalStatus:3636790] loss_of_function of CHST3 mutants [Golgi membrane]
input[DefinedSet:2064075] chondroitin(3)-core proteins [Golgi lumen] [Homo sapiens]
[SimpleEntity:741440] PAPS [Golgi lumen]
isChimericFALSE
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:3636794] Jassal, B, 2013-05-29
[InstanceEdit:3656245] Jassal, B, 2013-05-31
[InstanceEdit:4006088] Jassal, B, 2013-07-29
[InstanceEdit:4420338] Jassal, B, 2013-09-03
[InstanceEdit:5607062] Jassal, Bijay, 2014-07-10
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective CHST3 does not transfer SO4(2-) to chondroitin
normalReaction
releaseDate2014-09-30
reviewed[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5644258] R-HSA-3595175.3
summation[Summation:2018687] Carbohydrate sulfotransferase 3 (CHST3 also known as C6ST-1)...
(hasEvent)[Pathway:3595172] Defective CHST3 causes SEDCJD [Homo sapiens]
(updatedInstance)[_UpdateTracker:9777922] Update Tracker - [FailedReaction:3595175] Defective CHST3 does not transfer SO4(2-) to chondroitin - v68:[addCatalystActivity]
[_UpdateTracker:9953675] Update Tracker - [FailedReaction:3595175] Defective CHST3 does not transfer SO4(2-) to chondroitin - v93:[modifyText]
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