PNP Human

PNP catalyzes the reversible reaction where a purine nucleoside and phosphate are converted into a purine and alpha-D-ribose 1-phosphate . This enzyme is part of the glycosyltransferase family, specifically the pentosyltransferases . It is essential in the nucleotide salvage pathways, which allow cells to produce nucleotide monophosphates when the de novo synthesis pathway is interrupted or non-existent .

PNP deficiency is a rare autosomal recessive disorder that leads to severe combined immunodeficiency (SCID) and other immune abnormalities . This deficiency was first identified in the 1970s and is characterized by progressive immune abnormalities, neurological issues, and autoimmunity . Early detection and diagnosis are crucial to prevent life-threatening complications .

Recombinant human PNP is expressed in Escherichia coli (E. coli) without tags . This recombinant enzyme is used in various biochemical applications, including the detection of inorganic phosphate from biochemical reactions . It is also a target for therapeutic intervention in T-cell immune response .

The recombinant form of PNP is particularly useful in research and clinical settings. It helps in understanding the enzyme’s role in purine metabolism and its implications in immune response. Additionally, it is used in therapeutic interventions aimed at modulating the immune system .