ALDH7A1
Chr 5ARaldehyde dehydrogenase 7 family member A1
Also known as: ATQ1, EPD, EPEO4, PDE
ALDH7A1 encodes an aldehyde dehydrogenase enzyme that metabolizes aldehydes from lipid peroxidation and alcohol metabolism, and converts betaine aldehyde to betaine for cellular osmotic protection. Mutations cause pyridoxine-dependent epilepsy with early onset, inherited in an autosomal recessive pattern. The gene is not constrained against loss-of-function variants, and patients typically respond to vitamin B6 supplementation.
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
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALDH7A1 · 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