ALDH3A2

Chr 17AR

aldehyde dehydrogenase 3 family member A2

Also known as: ALDH10, FALDH, SLS

NCBI Gene: 224ENSG00000072210UniProt: P51648OMIM: 609523

The protein catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids, functioning in aldehyde detoxification from alcohol metabolism and lipid peroxidation. Mutations cause Sjögren-Larsson syndrome through an autosomal recessive inheritance pattern. The pathogenic mechanism involves loss of function, leading to toxic aldehyde accumulation.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismARLOEUF 0.821 OMIM phenotype
Clinical Summary— ALDH3A2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
130 unique Pathogenic / Likely Pathogenic· 115 VUS of 447 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.82LOEUF
pLI 0.000
Z-score 2.21
OE 0.51 (0.33–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.68Z-score
OE missense 0.88 (0.80–0.98)
245 obs / 277.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.33–0.82)
0≤0.351.4
Missense OE0.88 (0.80–0.98)
0≤0.61.4
Synonymous OE0.81
0≤1.21.6
LoF obs/exp: 12 / 23.6Missense obs/exp: 245 / 277.0Syn Z: 1.53
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveALDH3A2-related Sjogren-Larsson syndromeLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.79top 25%
GOF
0.75top 25%
LOF
0.2092th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

447 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic82
Likely Pathogenic48
VUS115
Likely Benign187
Benign2
Conflicting3
82
Pathogenic
48
Likely Pathogenic
115
VUS
187
Likely Benign
2
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
27
2
53
0
82
Likely Pathogenic
30
14
4
0
48
VUS
2
90
18
5
115
Likely Benign
1
5
80
101
187
Benign
0
0
2
0
2
Conflicting
—3
Total60111157106437

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

View in ClinVar →

Protein Context — Lollipop Plot

ALDH3A2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
ALDH3A2 negatively orchestrates gastric cancer progression through a synergistic induction of ferroptosis and ferroptosis-driven macrophage reprogramming.
Ren Y et al.·Cell Death Dis
2025
ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.
Foucault A et al.·Discov Med
2024Review
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Rajeshwari M et al.·Hum Mutat
2021Cohort
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K et al.·Arch Dermatol Res
2019Cohort
The translational potential of miR-26 in atherosclerosis and development of agents for its target genes ACC1/2, COL1A1, CPT1A, FBP1, DGAT2, and SMAD7.
Chen W et al.·Cardiovasc Diabetol
2024Review
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients