{"symbol":"PNPO","synonyms":["HEL-S-302","PDXPO"],"name":"pyridoxamine 5\u0027-phosphate oxidase","description":"The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5\u0027-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\u0027-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]","ncbiEntrezGeneId":55163,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55163","proteins":[{"symbol":"PNPO_HUMAN","href":"/api/1.0/protein/PNPO_HUMAN"}],"hgncRootFamilies":[]}