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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PNPO (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID55163
Official gene symbolPNPO
Full namepyridoxamine 5'-phosphate oxidase
Aliases,FLJ10535,PDXPO,
Gene summaryThe 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]
LocationChromosome: 17   Locus: 17q21.32
Gene position46018889 - 46026674  Map Viewer
Gene orientationplus
Gene size7786 bp
Gene sequence
OMIM ID603287