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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.
Gene Name: | pyridoxamine 5'-phosphate oxidase |
Synonyms: | PNPO, Pyridoxine 5-phosphate oxidase, Pyridoxine-5-phosphate oxidase, Pyridoxamine-phosphate oxidase, PDXPO, Pyridoxal 5-phosphate synthase |
Target Sequences: | NM_018129 NP_060599.1 Q9NVS9 |
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