基因名：
PNP
产品别名：
NP； PRO1837； PUNP； PNP； purine nucleoside phosphorylase； purine nucleoside phosphorylase； purine nucleoside phosphorylase； HEL-S-156an； epididymis secretory sperm binding protein Li 156an； inosine phosphorylase； inosine-guanosine phosphorylase； purine-nucleoside:orthophosphate ribosyltransferase； 嘌呤核苷磷酸化酶； 嘌呤核苷磷酸化酶(PNP)；
背景信息：
Purine nucleoside phosphorylase (PNP), also designated inosine phosphorylase, forms a homotrimer. It belongs to the PNP/MTAP phosphorylase family of proteins. Human PNP catalyzes the reversible phosphorolysis of ribonucleosides and 2’-deoxyribonucleosides with specificity for guanine, hypoxanthine, and their analogs. PNP deficiency is a rare autosomal recessive genetic disease associated with a severe defect in T-lymphocyte function and neurologic disorder in children, comprising four percent of combined immunodeficiency cases. Children with PNP deficiency are highly prone to infections, autoimmune disorders, neurological impairment, and cancer.
