The PNPO gene provides instructions for producing an enzyme called pyridox(am)ine 5′-phosphate oxidase. This enzyme is involved in the breakdown (metabolism) of vitamin B6. Specifically, it chemically modifies two forms of vitamin B6 obtained from food (pyridoxine and pyridoxamine) to create pyridoxal 5′-phosphate (PLP). PLP is the active form of vitamin B6, and it is necessary for many chemical reactions in the body, including protein metabolism and the processing of chemicals that transmit signals in the brain (neurotransmitters). Pyridox(am)ine 5′-phosphate oxidase is active (expressed) in cells throughout the body, with the highest amounts found in the liver.
Other Names
HEL-S-302; PDXPO; pyridoxal 5-prime-phosphate oxidase; pyridoxal 5-prime-phosphate synthetase; pyridoxamine-phosphate oxidase; pyridoxine 5'-phosphate oxidase
Related Genetics Topics
Identifiers
- NCBI Gene: 55163
- OMIM: 603287
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
