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Details on Person Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol
| Class:Id | FailedReaction:5653850 |
| _displayName | Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol |
| _doRelease | TRUE |
| _timestamp | 2015-09-04 20:50:48 |
| authored | [InstanceEdit:5653857] Jassal, Bijay, 2014-12-02 |
| catalystActivity | [CatalystActivity:9631781] amino acid transmembrane transporter activity of SLC36A2 mutants [plasma membrane] |
| compartment | [Compartment:984] extracellular region [Compartment:876] plasma membrane |
| created | [InstanceEdit:5653857] Jassal, Bijay, 2014-12-02 |
| disease | [Disease:5625037] amino acid metabolic disorder |
| edited | [InstanceEdit:5653857] Jassal, Bijay, 2014-12-02 |
| entityFunctionalStatus | [EntityFunctionalStatus:5653853] loss_of_function of SLC36A2 mutants [plasma membrane] |
| input | [DefinedSet:375409] Gly, L-Pro [extracellular region] [SimpleEntity:351626] H+ [extracellular region] |
| isChimeric | FALSE |
| literatureReference | [LiteratureReference:5653856] Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters |
| 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 |
| name | Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol |
| normalReaction |
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| releaseDate | 2015-09-22 |
| releaseStatus | NEW |
| reviewed | [InstanceEdit:6789776] Broer, Stefan, 2015-08-04 |
| reviewStatus | [ReviewStatus:9821382] five stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:6797162] R-HSA-5653850.3 |
| summation | [Summation:5653858] SLC36A2 encodes proton-coupled amino acid transporter 2 (PAT... |
| (hasEvent) | [Pathway:5619041] Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) [Homo sapiens] |
| (updatedInstance) | [_UpdateTracker:9778505] Update Tracker - [FailedReaction:5653850] Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol - v68:[addCatalystActivity] |
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