ALDH3B1

Chr 11

aldehyde dehydrogenase 3 family member B1

NCBI Gene: 221ENSG00000006534UniProt: P43353

Oxidizes medium and long chain saturated and unsaturated fatty aldehydes generated in the plasma membrane into non-toxic fatty acids (PubMed:17382292, PubMed:23721920). May have a protective role against the cytotoxicity induced by lipid peroxidation (PubMed:17382292). Short-chain fatty aldehydes are not good substrates (PubMed:17382292). Can use both NADP(+) and NAD(+) as electron acceptor in vitro, however in vivo preference will depend on their tissue levels (PubMed:17382292). Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde (PubMed:17382292, PubMed:23721920). Able to metabolize aromatic aldehydes such as benzaldehyde to their acid form (PubMed:17382292)

29
ClinVar variants
8
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ALDH3B1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 15 VUS of 29 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.99LOEUF
pLI 0.000
Z-score 1.58
OE 0.60 (0.38–0.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.96Z-score
OE missense 0.85 (0.76–0.94)
259 obs / 306.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.60 (0.38–0.99)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.76–0.94)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.01
0≤1.21.6
LoF obs/exp: 11 / 18.3Missense obs/exp: 259 / 306.2Syn Z: -0.11

ClinVar Variant Classifications

29 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic2
VUS15
Likely Benign5
Benign1
6
Pathogenic
2
Likely Pathogenic
15
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
2
0
2
VUS
0
12
3
0
15
Likely Benign
0
0
0
5
5
Benign
0
0
1
0
1
Total01212529

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ALDH3B1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.
Foucault A et al.·Discov Med
2024Review
Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer.
Tang C et al.·Biomark Med
2024
[ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer].
Li Q et al.·Nan Fang Yi Ke Da Xue Xue Bao
2022
Dual roles and therapeutic potential of ALDH3 family members in cancer.
Liu Q et al.·Chem Biol Interact
2025Review
ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma.
Sun H et al.·Technol Cancer Res Treat
2020
Integrative analyses of network pharmacology and bioinformatics reveal the synergistic antitumor effects of cantharidin and ginsenosides Rg3 on hepatocellular carcinoma.
Gou X et al.·Biochem Pharmacol
2026
Are we better together? Addressing a combined treatment of pitavastatin and temozolomide for brain cancer.
Basso J et al.·Eur J Pharmacol
2024
Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia.
Wang Y et al.·Biol Psychiatry
2009
Establishment and External Validation of a Hypoxia-Derived Gene Signature for Robustly Predicting Prognosis and Therapeutic Responses in Glioblastoma Multiforme.
Wang K et al.·Biomed Res Int
2022
Development of a Clinical Prognostic Model for Metabolism-Related Genes in Squamous Lung Cancer and Correlation Analysis of Immune Microenvironment.
Zhuang Z et al.·Biomed Res Int
2022Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools