Gene Symbol | PNPO |
Entrez Gene ID | 55163 |
Full Name | pyridoxamine 5'-phosphate oxidase |
Synonyms | HEL-S-302,PDXPO |
General protein information |
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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) |