Reaction: Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose
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).
Reaction - small molecule participants:
Pi [cytosol]
Reactome.org reaction link: R-HSA-9735775
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Reaction input - small molecules:
hydrogenphosphate
Reaction output - small molecules:
Reactome.org link: R-HSA-9735775