Reactome | Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine

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Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine Show undefined attributes

authored	[InstanceEdit:9735771] D'Eustachio, Peter, 2021-07-02
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9735771] D'Eustachio, Peter, 2021-07-02
crossReference	[DatabaseIdentifier:12819601] BioModels Database:BIOMD0000000015 [DatabaseIdentifier:12020917] Mondo:0013171
dbId	9735763
disease	[Disease:9735764] purine nucleoside phosphorylase deficiency
displayName	Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine
edited	[InstanceEdit:9736402] Jassal, Bijay, 2021-07-09
eventOf	[Pathway:R-HSA-9735786] Nucleotide catabolism defects - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9735789] Defective PNP does not convert (deoxy)guanosine to guanine and (deoxy)ribose - Homo sapiens [FailedReaction:R-HSA-9735775] Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9735765] Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency [LiteratureReference:112027] A human purine nucleoside phosphorylase deficiency caused by a single base change
maxDepth	2
modified	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name	Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine
normalPathway	[Pathway:R-HSA-8956319] Nucleotide catabolism
releaseDate	2022-03-23
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9736402] Jassal, Bijay, 2021-07-09
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9735763
summation	[Summation:9735778] Normally in humans, PNP (purine nucleotide phosphorylase) ca...

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[Pathway:R-HSA-9735786] Nucleotide catabolism defects

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