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PNP trimer mutants [cytosol]
Stable Identifier
R-HSA-9735776
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of nucleotide metabolism (Homo sapiens)
Nucleotide catabolism defects (Homo sapiens)
Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine (Homo sapiens)
Defective PNP does not convert (deoxy)guanosine to guanine and (deoxy)ribose (Homo sapiens)
PNP trimer mutants [cytosol] (Homo sapiens)
Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose (Homo sapiens)
PNP trimer mutants [cytosol] (Homo sapiens)
Participants
members
PNP D128G trimer [cytosol]
(Homo sapiens)
PNP E89K trimer [cytosol]
(Homo sapiens)
PNP R234P trimer [cytosol]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
purine nucleoside phosphorylase deficiency
DOID:5813
deficiency of inosine phosphorylase, Purine nucleoside phosphorylase deficiency, PNP deficiency, Purine-Nucleoside Phosphorylase deficiency
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