EPEO4
Chr 5ARaldehyde dehydrogenase 7 family member A1
Also known as: ATQ1, EPD, EPEO4, PDE
The protein encoded by this gene is an aldehyde dehydrogenase that detoxifies aldehydes from alcohol metabolism and lipid peroxidation, and participates in lysine catabolism in the mitochondrial matrix. Mutations cause early-onset, vitamin B6-dependent epilepsy (pyridoxine-dependent epilepsy) with autosomal recessive inheritance. This condition typically presents in the neonatal period with seizures that are refractory to standard anticonvulsants but respond to pyridoxine supplementation.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EPEO4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EPEO4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools