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Details on Person Defective APRT does not convert adenine to AMP

Class:IdFailedReaction:9734193
_displayNameDefective APRT does not convert adenine to AMP
_doReleaseTRUE
_timestamp2022-03-01 19:00:16
authored[InstanceEdit:9735771] D'Eustachio, Peter, 2021-07-02
catalystActivity[CatalystActivity:9734181] adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol]
catalystActivityReference[CatalystActivityReference:9734192] adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency
compartment[Compartment:70101] cytosol
created[InstanceEdit:9734180] D'Eustachio, Peter, 2021-06-15
disease[Disease:9734160] adenine phosphoribosyltransferase deficiency
edited[InstanceEdit:9736402] Jassal, Bijay, 2021-07-09
entityFunctionalStatus[EntityFunctionalStatus:9734190] loss_of_function of APRT dimer mutants [cytosol]
input[SimpleEntity:83951] Ade [cytosol]
[SimpleEntity:73566] PRPP [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:9734150] Adenine phosphoribosyltransferase deficiency
[LiteratureReference:9734147] Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
[LiteratureReference:9734156] Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese
[LiteratureReference:9734174] Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis
[LiteratureReference:9734146] Complete deficiency of adenine phosphoribosyltransferase. Report of a family
modified[InstanceEdit:9734206] D'Eustachio, Peter, 2021-06-15
[InstanceEdit:9736404] D'Eustachio, Peter, 2021-07-09
[InstanceEdit:9757301] D'Eustachio, Peter, 2021-10-28
[InstanceEdit:9757728] D'Eustachio, Peter, 2021-11-04
[InstanceEdit:9764258] D'Eustachio, Peter, 2022-02-10
[InstanceEdit:9764573] D'Eustachio, Peter, 2022-02-11
[InstanceEdit:9767862] D'Eustachio, Peter, 2022-03-01
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective APRT does not convert adenine to AMP
normalReaction
releaseDate2022-03-23
reviewed[InstanceEdit:9736402] Jassal, Bijay, 2021-07-09
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9734199] R-HSA-9734193.2
summation[Summation:9734194] Normally in humans, adenine generated in processes such as p...
(hasEvent)[Pathway:9734195] Defective APRT disrupts adenine salvage [Homo sapiens]
(precedingEvent)[Reaction:9758363] XDH oxidizes adenine to 2,8-dioxoadenine [Homo sapiens]
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