| Gene Symbol | PNPO |
| Entrez Gene ID | 55163 |
| Full Name | pyridoxamine 5'-phosphate oxidase |
| Synonyms | HEL-S-302,PDXPO |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) |
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