EC 2.4.2.1
[The enzyme purine nucleoside phosphorylase belongs to the PNP/MTAP phosphorylase family and together with adenosine deaminase (ADA) serves a key role in purine catabolism, referred to as the salvage pathway. Defects in NP are the cause of nucleoside phosphorylase deficiency (NP deficiency). It leads to a severe T-cell immunodeficiency with neurologic disorder in children. ( NCI )]
UMLS (NCI) C0034135- Amino Acid, Peptide, or Protein
- Enzyme
Relation/PAR: pentosyltransferase
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