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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ALDH3A2
aldehyde dehydrogenase 3 family member A2
Chromosome 17 · 17p11.2
NCBI Gene: 224Ensembl: ENSG00000072210.20HGNC: HGNC:403UniProt: P51648
186PubMed Papers
21Diseases
0Drugs
180Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peripheral nervous system developmentaldehyde dehydrogenase (NAD+) activityprotein bindingintracellular membrane-bounded organelleSjögren-Larsson syndromeSjogren-Larsson syndromegenetic disordercerebral palsy
✦AI Summary

ALDH3A2 (fatty aldehyde dehydrogenase) catalyzes the oxidation of medium and long-chain aliphatic aldehydes (6-24 carbons) to their corresponding fatty acids 1. It functions as a membrane-bound protein involved in fatty acid oxidation and is responsible for converting sphingosine 1-phosphate degradation products, including hexadecenal to hexadecenoic acid 2. The enzyme operates primarily through NAD+-dependent oxidation mechanisms and exhibits long-chain fatty aldehyde dehydrogenase activity 3. Mutations in ALDH3A2 cause Sjögren-Larsson syndrome (SLS), an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia 4. Disease pathogenesis involves structural disturbance and impaired metabolite clearance, leading to abnormal lipid accumulation that disrupts multilamellar membrane formation in skin and myelin 35. Missense mutations (38% of identified mutations) predominantly reduce enzyme activity, while deletions and splice-site mutations account for additional disease mechanisms 4. Beyond SLS, ALDH3A2 expression alterations associate with pulmonary arterial hypertension and gastric adenocarcinoma prognosis 67. In colorectal cancer, ALDH3A2 upregulation via PI3K/AKT signaling promotes lipid accumulation and metastasis 8. These findings suggest ALDH3A2's broader roles in cellular metabolism regulation and disease pathogenesis.

Sources cited
1
ALDH3A2 catalyzes oxidation of medium and long-chain aliphatic aldehydes
PMID: 18035827
2
ALDH3A2 converts hexadecenal to hexadecenoic acid from S1P degradation
PMID: 22633490
3
ALDH3A2 is membrane-bound, involved in fatty oxidation; mutations cause Sjögren-Larsson syndrome
PMID: 40736838
4
ALDH3A2 mutations cause autosomal recessive SLS; 72 mutations identified with missense mutations comprising 38%
PMID: 15931689
5
ALDH3A2 mutations impair normal formation of multilamellar membranes in stratum corneum and myelin
PMID: 22411255
6
ALDH3A2 overexpression suppresses pulmonary artery smooth muscle cell proliferation and inhibits glycolysis
PMID: 40618980
7
ALDH3A2 is included in mitochondrial-related prognostic risk model for gastric adenocarcinoma
PMID: 36915111
8
ALDH3A2 upregulation via PI3K/AKT signaling promotes lipid accumulation in colorectal cancer metastasis
PMID: 38844980
Disease Associationsⓘ21
Sjögren-Larsson syndromeOpen Targets
0.85Strong
Sjogren-Larsson syndromeOpen Targets
0.82Strong
genetic disorderOpen Targets
0.41Moderate
cerebral palsyOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.19Weak
sialadenitisOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
adolescent idiopathic scoliosisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
gastric adenocarcinomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
pulmonary arterial hypertensionOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Sjoegren-Larsson syndromeUniProt
Pathogenic Variants180
NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs)Pathogenic
not provided|Sjögren-Larsson syndrome
★★☆☆2026→ Residue 125
NM_000382.3(ALDH3A2):c.471+1delPathogenic
Sjögren-Larsson syndrome|not provided|Malignant tumor of esophagus
★★☆☆2026
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2026→ Residue 433
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2026→ Residue 184
NM_000382.3(ALDH3A2):c.1108-1G>CPathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025
NM_000382.2(ALDH3A2):c.154_155delAGPathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 51
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 315
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)Pathogenic
Sjögren-Larsson syndrome
★★☆☆2025→ Residue 316
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 437
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 326
NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)Pathogenic
Sjögren-Larsson syndrome
★★☆☆2025→ Residue 400
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 266
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 228
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 386
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His)Pathogenic
not provided|Sjögren-Larsson syndrome
★★☆☆2025→ Residue 423
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 10
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)Pathogenic
not provided|Sjögren-Larsson syndrome
★★☆☆2025→ Residue 228
NM_000382.3(ALDH3A2):c.835T>A (p.Tyr279Asn)Pathogenic
not provided|Sjögren-Larsson syndrome
★★☆☆2025→ Residue 279
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)Pathogenic
Sjögren-Larsson syndrome|not provided
★★☆☆2025→ Residue 438
View on ClinVar ↗
Related Genes
ACOX1Protein interaction96%ACOT12Protein interaction96%ACYP1Protein interaction95%ACYP2Protein interaction95%GADL1Protein interaction95%GATMProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
33%
Lung
31%
Ovary
23%
Brain
20%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
ALDH3A2ACOX1ACOT12ACYP1ACYP2GADL1GATM
PROTEIN STRUCTURE
Preparing viewer…
PDB4QGK · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.55–0.97]
RankingsWhere ALDH3A2 stands among ~20K protein-coding genes
  • #2,301of 20,598
    Most Researched186 · top quartile
  • #397of 5,498
    Most Pathogenic Variants180 · top 10%
  • #9,225of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedALDH3A2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Significance of ALDH3A2, a mitochondrial metabolism and glycolysis related gene, in pulmonary arterial hypertension.
PMID: 40618980
Eur J Pharmacol · 2025
1.00
2
Constructing a novel mitochondrial-related gene signature for evaluating the tumor immune microenvironment and predicting survival in stomach adenocarcinoma.
PMID: 36915111
J Transl Med · 2023
0.90
3
Deficiency of SDHC promotes metastasis by reprogramming fatty acid metabolism in colorectal cancer.
PMID: 38844980
J Transl Med · 2024
0.80
4
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
PMID: 32085885
Adv Protein Chem Struct Biol · 2020
0.70
5
Activin/Smad2 and Wnt/β-catenin up-regulate HAS2 and ALDH3A2 to facilitate mesendoderm differentiation of human embryonic stem cells.
PMID: 30282636
J Biol Chem · 2018
0.64