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Details on Person Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol

Class:IdFailedReaction:5653850
_displayNameDefective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol
_doReleaseTRUE
_timestamp2015-09-04 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]
isChimericFALSE
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
nameDefective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol
normalReaction
releaseDate2015-09-22
releaseStatusNEW
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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