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Details on Person Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS

Class:IdFailedReaction:3560785
_displayNameDefective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS
_doReleaseTRUE
_timestamp2015-02-03 17:51:07
authored[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity[CatalystActivity:9631815] adenylylsulfate kinase activity of PAPSS2 mutants [cytosol]
compartment[Compartment:70101] cytosol
created[InstanceEdit:3560797] Jassal, B, 2013-05-21
disease[Disease:3656231] spondyloepimetaphyseal dysplasia
edited[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus[EntityFunctionalStatus:3621826] loss_of_function of PAPSS2 mutants [cytosol]
input[SimpleEntity:113592] ATP [cytosol]
[SimpleEntity:174370] APS [cytosol]
literatureReference[LiteratureReference:176653] Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
[LiteratureReference:3621704] Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred
[LiteratureReference:3621763] Inactivating PAPSS2 mutations in a patient with premature pubarche
modified[InstanceEdit:3621807] Jassal, B, 2013-05-24
[InstanceEdit:3656245] Jassal, B, 2013-05-31
[InstanceEdit:4006088] Jassal, B, 2013-07-29
[InstanceEdit:5607062] Jassal, Bijay, 2014-07-10
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS
normalReaction
releaseDate2014-09-30
reviewed[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5645148] R-HSA-3560785.3
summation[Summation:176543] In the second step of PAPS biosynthesis, adenylyl sulfate (A...
(hasEvent)[Pathway:3560796] Defective PAPSS2 causes SEMD-PA [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778312] Update Tracker - [FailedReaction:3560785] Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS - v68:[addCatalystActivity]
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