Aliases:This biomarker is also known as:
- nucleoside phosphorylase,
- purine nucleoside phosphorylase,
PNP, a cytoplasmic protein, is an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Defects in PNP are the cause of purine nucleoside phosphorylase deficiency (PNP deficiency) which leads to a severe T-cell immunodeficiency with neurologic disorder in children. PNP mutations also affect B-cell immunity and antibody responses.
|QA State:||Under Review|
There are no datasets associated with this biomarker.