Aliases for PNPO Gene
External Ids for PNPO Gene
Previous GeneCards Identifiers for PNPO Gene
The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
GeneCards Summary for PNPO Gene
PNPO (Pyridoxamine 5'-Phosphate Oxidase) is a Protein Coding gene. Diseases associated with PNPO include Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency and Neuronopathy, Distal Hereditary Motor, Type Va. Among its related pathways are Folate Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-NH2 group of donors.
UniProtKB/Swiss-Prot Summary for PNPO Gene
Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).