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Details on Person Defective SLC35A2 does not exchange UDP-Gal, UDP-GalNAc for UMP

Class:IdFailedReaction:5652099
_displayNameDefective SLC35A2 does not exchange UDP-Gal, UDP-GalNAc for UMP
_doReleaseTRUE
_timestamp2015-09-04 20:50:45
authored[InstanceEdit:5622118] Jassal, Bijay, 2014-09-11
catalystActivity[CatalystActivity:9631912] UDP-galactose transmembrane transporter activity of SLC35A2 mutants [Golgi membrane]
compartment[Compartment:17963] Golgi lumen
[Compartment:20699] Golgi membrane
[Compartment:70101] cytosol
created[InstanceEdit:5652118] Jassal, Bijay, 2014-11-27
disease[Disease:3656242] congenital disorder of glycosylation type II
[Disease:5632824] early infantile epileptic encephalopathy
edited[InstanceEdit:5622118] Jassal, Bijay, 2014-09-11
entityFunctionalStatus[EntityFunctionalStatus:5652109] loss_of_function of SLC35A2 mutants [Golgi membrane]
input[DefinedSet:735692] UDP-Gal, UDP-GalNAc [cytosol]
[SimpleEntity:735698] UMP [Golgi lumen]
isChimericFALSE
literatureReference[LiteratureReference:5652108] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy
[LiteratureReference:5652121] Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
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 SLC35A2 does not exchange UDP-Gal, UDP-GalNAc for UMP
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:6797159] R-HSA-5652099.3
summation[Summation:5652102] The human gene SLC35A2 encodes the UDP-galactose transporter...
(hasEvent)[Pathway:5619072] Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778105] Update Tracker - [FailedReaction:5652099] Defective SLC35A2 does not exchange UDP-Gal, UDP-GalNAc for UMP - v68:[addCatalystActivity]
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