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Official Full Name
pyridoxamine 5'-phosphate oxidase
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.
PNPO; pyridoxamine 5-phosphate oxidase; pyridoxine 5 phosphate oxidase; pyridoxine-5-phosphate oxidase; PDXPO; EC; FLJ10535; PNPO_HUMAN; Pyridoxal 5 phosphate synthase; pyridoxamine 5 phosphate oxidase; Pyridoxamine phosphate oxidase; Pyridoxamine-phosphate oxidase; pyridoxal 5-phosphate synthase; pyridoxine 5-phosphate oxidase; im:7138360

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