ALDH1B1
Chr 9aldehyde dehydrogenase 1 family member B1
Also known as: ALDH5, ALDHX
This aldehyde dehydrogenase catalyzes the oxidation of acetaldehyde to acetate in alcohol metabolism and is involved in detoxifying aldehydes from corticosteroid metabolism, neurotransmitters, and lipid peroxidation. Mutations cause autosomal recessive mitochondrial complex I deficiency with varied presentations including leigh syndrome, hypertrophic cardiomyopathy, and hepatopathy with onset ranging from neonatal to adult periods. The gene is highly constrained against loss-of-function variants (pLI near 1.0), indicating intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
ALDH1B1 · 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