PNP : purine nucleoside phosphorylase
Description
The PNP (purine nucleoside phosphorylase) is a protein-coding gene located on chromosome 14.
The PNP gene provides instructions for making purine nucleoside phosphorylase (PNP), an enzyme found throughout the body, particularly in lymphocytes. These white blood cells are crucial for immune defense against harmful invaders. Lymphocytes are produced in the thymus and lymph nodes, and circulate in the blood. PNP acts as a 'housekeeping' enzyme, clearing away waste molecules like deoxyinosine and deoxyguanosine, which arise from DNA breakdown. Specifically, it converts deoxyinosine to hypoxanthine and deoxyguanosine to guanine.
PNP catalyzes the breakdown of N-glycosidic bonds in beta-(deoxy)ribonucleoside molecules, producing free purine bases and pentose-1-phosphate. It preferentially targets 6-oxopurine nucleosides like inosine and guanosine.
PNP is also known as NP, PRO1837, PUNP.
Associated Diseases
- Purine nucleoside phosphorylase deficiency
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
