PNPO, Official Symbol PNPOprovided by HGNC Official Full Name pyridoxamine 5'-phosphate oxidaseprovided by HGNC Primary source HGNC:HGNC:30260 See related Ensembl:ENSG00000108439 MIM:603287; AllianceGenome:HGNC:30260 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDXPO; HEL-S-302 Summary 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] Expression Ubiquitous expression in liver (RPKM 22.0), kidney (RPKM 16.0) and 23 other tissues See more Orthologs mouse all