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Details on Person Defective SLC35A3 does not exchange UDP-GlcNAc for UMP
| Class:Id | FailedReaction:5653622 |
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| _displayName | Defective SLC35A3 does not exchange UDP-GlcNAc for UMP |
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| _doRelease | TRUE |
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| _timestamp | 2015-09-04 20:50:47 |
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| authored | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
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| catalystActivity | [CatalystActivity:9631821] UDP-N-acetylglucosamine transmembrane transporter activity of SLC35A3 mutants [Golgi membrane] |
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| compartment | [Compartment:17963] Golgi lumen
[Compartment:20699] Golgi membrane
[Compartment:70101] cytosol |
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| created | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
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| disease | [Disease:5653601] distal arthrogryposis
[Disease:5653597] epilepsy syndrome
[Disease:3656232] developmental disorder of mental health |
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| edited | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5653605] loss_of_function of SLC35A3 mutants [Golgi membrane] |
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| input | [SimpleEntity:162756] UDP-GlcNAc [cytosol]
[SimpleEntity:735698] UMP [Golgi lumen] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5653606] Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis |
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| modified | [InstanceEdit:5663019] Jassal, Bijay, 2015-01-14
[InstanceEdit:6789777] Jassal, Bijay, 2015-08-04
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective SLC35A3 does not exchange UDP-GlcNAc for UMP |
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| normalReaction |
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| releaseDate | 2015-09-22 |
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| releaseStatus | NEW |
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| reviewed | [InstanceEdit:6789776] Broer, Stefan, 2015-08-04 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:6797161] R-HSA-5653622.3 |
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| summation | [Summation:5653589] The human gene SLC35A3 encodes a UDP-GlcNAc transporter. It ... |
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| (hasEvent) | [Pathway:5619083] Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778314] Update Tracker - [FailedReaction:5653622] Defective SLC35A3 does not exchange UDP-GlcNAc for UMP - v68:[addCatalystActivity] |
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