PNPO
Function
Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).
Involvement in disease
Pyridoxine-5'-phosphate oxidase deficiency
PNPOD
The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate: step 1/1.
Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate: step 1/1.
Sequence Similarities
Belongs to the pyridoxamine 5'-phosphate oxidase family.
Tissue Specificity
Ubiquitous. Expressed in liver, brain, lung, prostate and stomach (at protein level).
Alternative names
Pyridoxine-5'-phosphate oxidase, Pyridoxamine-phosphate oxidase, PNPO