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

Stable Identifier
R-HSA-9735763
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine
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Normally in humans, PNP (purine nucleotide phosphorylase) catalyzes the conversion of (deoxy)guanosine and (deoxy)inosine to guanine and hypoxanthine, respectively. In the absence of PNP activity, however, these purine nucleosides accumulate, disrupting lymphoid cell function and leading to severe immunodeficiency (Aust et al. 1992; Williams et al. 1987).
Literature References
PubMed ID Title Journal Year
3029074 A human purine nucleoside phosphorylase deficiency caused by a single base change

Williams, SR, Gekeler, V, McIvor, RS, Martin, Jr, DW

J Biol Chem 1987
1384322 Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency

Aust, MR, Andrews, LG, Barrett, MJ, Norby-Slycord, CJ, Markert, ML

Am J Hum Genet 1992
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Name Identifier Synonyms
purine nucleoside phosphorylase deficiency DOID:5813 deficiency of inosine phosphorylase, Purine nucleoside phosphorylase deficiency, PNP deficiency, Purine-Nucleoside Phosphorylase deficiency
Cross References
Mondo
BioModels Database
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-07-02)
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