Purine nucleoside phosphorylase
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purine-nucleoside phosphorylase; inosine phosphorylase; PNPase
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Identifiers | |
Symbol | NP |
HUGO | 7892 |
Entrez | 4860 |
OMIM | 164050 |
UniProt | P00491 |
PDB | 1RT9 |
Other data | |
EC number | 2.4.2.1 |
Locus | Chr. 14 q13.1 |
Purine nucleoside phosphorylase (also known as PNPase) is an enzyme (EC 2.4.2.1) involved in purine metabolism. PNP metabolizes inosine and guanosine into hypoxanthine.
[edit] PNP deficiency
Purine nucleoside phosphorylase deficiency is a rare congenital immunodeficiency, often associated with neurological disorders such as mental retardation.