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Details on Person Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan
| Class:Id | FailedReaction:9036290 |
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| _displayName | Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan |
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| _doRelease | FALSE |
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| _timestamp | 2025-05-30 07:55:20 |
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| authored | [InstanceEdit:3656262] Jassal, B, 2013-05-31 |
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| catalystActivity | [CatalystActivity:9631946] glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity of EXT1:EXT2 mutants [Golgi membrane] |
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| compartment | [Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen |
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| created | [InstanceEdit:3656262] Jassal, B, 2013-05-31 |
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| disease | [Disease:3656226] hereditary multiple exostoses |
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| edited | [InstanceEdit:3656245] Jassal, B, 2013-05-31 |
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| entityFunctionalStatus | [EntityFunctionalStatus:3731101] loss_of_function of EXT1:EXT2 mutants [Golgi membrane] |
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| input | [SimpleEntity:914003] UDP-GlcNAc [Golgi lumen]
[DefinedSet:2076551] GlcA-Gal-Gal-Xyl-HS proteins [Golgi lumen] [Homo sapiens] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:3731093] The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
[LiteratureReference:3731063] Positional cloning of a gene involved in hereditary multiple exostoses
[LiteratureReference:3731103] Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
[LiteratureReference:3731058] New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas |
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| modified | [InstanceEdit:3656274] Jassal, B, 2013-05-31
[InstanceEdit:3656275] Jassal, B, 2013-05-31
[InstanceEdit:3730939] Jassal, B, 2013-06-17
[InstanceEdit:3731078] Jassal, B, 2013-06-17
[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
[InstanceEdit:9953255] Stephan, Ralf, 2025-05-30
[InstanceEdit:9953294] Stephan, Ralf, 2025-06-02 |
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| name | Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan |
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| releaseDate | 2014-09-30 |
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| reviewed | [InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:9036292] R-HSA-9036290.3 |
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| summation | [Summation:3731066] Exostosin 1 and 2 (EXT1 and 2) are dual-specific glycosyltra... |
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| (updatedInstance) | [_UpdateTracker:9778531] Update Tracker - [FailedReaction:9036290] Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan - v68:[addCatalystActivity]
[_UpdateTracker:9835760] Update Tracker - [FailedReaction:9036290] Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan - v85:[modifyText] |
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