ALDH3A2

Chr 17AR

aldehyde dehydrogenase 3 family member A2

Also known as: ALDH10, FALDH, SLS

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 SummaryALDH3A2
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
0.82LOEUF
pLI 0.000
Z-score 2.21
OE 0.51 (0.330.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.68Z-score
OE missense 0.88 (0.800.98)
245 obs / 277.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.330.82)
00.351.4
Missense OE0.88 (0.800.98)
00.61.4
Synonymous OE0.81
01.21.6
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

0 submitted variants 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

No active trials found for this gene.

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Clinical Literature
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