Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose

Stable Identifier
R-HSA-9735775
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose
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Normally in humans, PNP (purine nucleotide phosphorylase) catalyzes the reaction of (deoxy)inosine with phosphate to yield hypoxanthine and (deoxy)ribose. In the absence of PNP activity, however, inosine and deoxyinosine accumulate. Here, we have annotated the failure of this reaction due to three missense mutant alleles of PNP, identified in patients with severe immunodeficiency and shown to encode catalytically inactive forms of PNP protein (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

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

Am J Hum Genet 1992
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Catalyst Activity

purine-nucleoside phosphorylase activity of PNP trimer mutants [cytosol]

Physical Entity
PNP trimer mutants [cytosol] (Homo sapiens)
Activity
purine-nucleoside phosphorylase activity (GO:0004731)
Normal reaction
PNP catalyzes the conversion of (deoxy)inosine to hypoxanthine and (deoxy)ribose (Homo sapiens)
Functional status

Loss of function of PNP trimer mutants [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
purine nucleoside phosphorylase deficiency DOID:5813 deficiency of inosine phosphorylase, Purine nucleoside phosphorylase deficiency, PNP deficiency, Purine-Nucleoside Phosphorylase deficiency
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-07-02)
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