PNP ELISA Kits

靶标信息

The PNP gene encodes for the enzyme purine nucleoside phosphorylase, which plays a vital role in the purine salvage pathway by catalyzing the reversible cleavage of purine nucleosides. This enzyme facilitates the conversion of inosine, guanosine, and deoxyguanosine into free bases and sugars phosphorylated at the C1 position. PNP is located on chromosome 14q13 and is crucial for nucleoside catabolism, impacting energy metabolism and cellular functions across various organisms. PNP deficiency is an autosomal recessive multisystem disorder arising from mutations in the PNP gene, leading to impaired T-cell maturation and function, resulting in recurrent infections, autoimmune manifestations, and neurological abnormalities due to the toxic accumulation of deoxyguanosine triphosphate (dGTP). This deficiency particularly affects immature thymocytes and can lead to lymphoid and neuronal toxicity, underscoring the gene's importance in proper immune system function and cellular health.

同义词

AL024301; AU015798; endothelial dysfunction inducing protein; epididymis secretory sperm binding protein Li 156an; HEL-S-156an; inosine phosphorylase; inosine phosphorylase {ECO:0000250; Inosine-guanosine phosphorylase; Np; Np-1; Np-2; nucleoside phosphorylase; PNP; PNP {ECO:0000250; Pnp1; PRO1837; PUNP; purine nucleoside phosphorylase; purine nucleoside phosphorylase {ECO:0000250; purine-nucleoside phosphorylase; purine-nucleoside phosphorylase 1; purine-nucleoside:orthophosphate ribosyltransferase; UniProtKB:P00491}