Entrez gene ID | | 55163 |
Official gene symbol | | PNPO |
Full name | | pyridoxamine 5'-phosphate oxidase |
Aliases | | ,FLJ10535,PDXPO, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17q21.32 |
Gene position | | 46018889 - 46026674 Map Viewer |
Gene orientation | | plus |
Gene size | | 7786 bp |
Gene sequence |
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OMIM ID | | 603287 |
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