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PNPO pyridoxamine 5'-phosphate oxidase

Also known as: PDXPO; HEL-S-302

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]

Associated conditions

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DescriptionTests
Pyridoxal 5'-phosphate-dependent epilepsy
MedGen: C1864723OMIM: 610090GeneReviews: Not available
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Genomic context

Location:
17q21.32
Sequence:
Chromosome: 17; NC_000017.11 (47941523..47949308)
Total number of exons:
7

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