ALDH1B1

Chr 9

aldehyde 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.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.30
Clinical SummaryALDH1B1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.30LOEUF
pLI 0.000
Z-score 0.78
OE 0.77 (0.471.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.23Z-score
OE missense 1.04 (0.951.13)
333 obs / 321.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.77 (0.471.30)
00.351.4
Missense OE1.04 (0.951.13)
00.61.4
Synonymous OE0.95
01.21.6
LoF obs/exp: 10 / 13.0Missense obs/exp: 333 / 321.5Syn Z: 0.49
DN
0.7229th %ile
GOF
0.5955th %ile
LOF
0.2968th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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