ALDH1A1
Chr 9aldehyde dehydrogenase 1 family member A1
Also known as: ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1
The cytosolic aldehyde dehydrogenase enzyme catalyzes the oxidation of aldehydes to carboxylic acids, including the conversion of retinaldehyde to retinoic acid in vitamin A metabolism and detoxification of cytotoxic aldehydes from lipid peroxidation. Mutations cause microphthalmia with coloboma 8, an autosomal recessive disorder affecting ocular development. The gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALDH1A1 · 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
Disulfiram/Copper Combination In The Treatment of Newly Diagnosed Glioblastoma Multiform
NOT YET RECRUITINGTranscriptomic Responses for the Identification of Pathogens
RECRUITINGExternal Resources
Links to major genomics databases and tools