PNPO
Chr 17ARpyridoxamine 5'-phosphate oxidase
Also known as: HEL-S-302, PDXPO
This enzyme catalyzes the oxidation of pyridoxine 5'-phosphate and pyridoxamine 5'-phosphate into pyridoxal 5'-phosphate (vitamin B6), which serves as an essential cofactor for neurotransmitter synthesis and homocysteine metabolism. Mutations cause pyridoxamine 5'-phosphate oxidase deficiency, a form of neonatal epileptic encephalopathy with autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants, consistent with the recessive disease pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PNPO · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools