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Details on Person adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency

Class:Id	CatalystActivityReference:9734192
_displayName	adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency
_timestamp	2021-06-15 19:39:11
catalystActivity	[CatalystActivity:9734181] adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol]
created	[InstanceEdit:9734180] D'Eustachio, Peter, 2021-06-15
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
modified	[InstanceEdit:9734206] D'Eustachio, Peter, 2021-06-15
(catalystActivityReference)	[FailedReaction:9734193] Defective APRT does not convert adenine to AMP [Homo sapiens]
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No pathways have been reviewed or authored by adenine phosphoribosyltransferase activity of APRT dimer mutants [cytosol] Adenine phosphoribosyltransferase deficiency (9734192)