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 Visual Epilepsy. Among its related pathways are Selenium Micronutrient Network and Vitamin B6 metabolism. 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).