ALDH3A1
Chr 17aldehyde dehydrogenase 3 family member A1
Also known as: ALDH3, ALDHIII
The enzyme oxidizes aromatic and medium-chain aldehydes to corresponding acids and comprises about 50% of corneal epithelial soluble proteins, playing a role in protecting the cornea from UV-induced oxidative damage. Biallelic mutations cause autosomal recessive microphthalmia with coloboma and other eye abnormalities. The gene shows low constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance requiring biallelic mutations for disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALDH3A1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools