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Details on Person Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen
| Class:Id | FailedReaction:5653596 |
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| _displayName | Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen |
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| _doRelease | TRUE |
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| _timestamp | 2015-09-04 20:50:46 |
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| authored | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
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| catalystActivity | [CatalystActivity:9631795] GDP-fucose transmembrane transporter activity of SLC35C1 mutants [Golgi membrane] |
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| compartment | [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:3656242] congenital disorder of glycosylation type II |
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| edited | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5653619] loss_of_function of SLC35C1 mutants [Golgi membrane] |
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| input | [SimpleEntity:742368] GDP-Fuc [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5653592] Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
[LiteratureReference:742378] Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency |
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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 SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen |
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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:6797160] R-HSA-5653596.3 |
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| summation | [Summation:5653591] The human gene SLC35C1 encodes a GDP-fucose transporter that... |
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| (hasEvent) | [Pathway:5619078] Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C) [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778685] Update Tracker - [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen - v68:[addCatalystActivity]
[_UpdateTracker:9842236] Update Tracker - [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen - v86:[modifyText] |
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