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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ALDH9A1
aldehyde dehydrogenase 9 family member A1
Chromosome 1 · 1q24.1
NCBI Gene: 223Ensembl: ENSG00000143149.14HGNC: HGNC:412UniProt: P49189
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aldehyde dehydrogenase (NAD+) activityaldehyde metabolic processserotonin catabolic processprotein homotetramerizationneurodegenerative diseaseAlzheimer diseaseParkinson diseasemultiple sclerosis
✦AI Summary

ALDH9A1 is a cytosolic NAD+-dependent aldehyde dehydrogenase that catalyzes the oxidation of aldehydes to carboxylic acids with broad substrate specificity 1. The enzyme exhibits highest catalytic efficiency toward γ-trimethylaminobutyraldehyde and functions as a tetrameric protein with a unique inter-domain linker structure not observed in other ALDH family members 1. Beyond canonical aldehyde metabolism, ALDH9A1 generates gamma-aminobutyric acid (GABA) in hepatocellular carcinoma and metabolizes polyamine-derived aldehydes, including 3-aminopropanal and acrolein 2, 3. In cancer contexts, ALDH9A1 exhibits context-dependent roles. In hepatocellular carcinoma, ALDH9A1-derived GABA activates Wnt/β-catenin signaling to promote metastasis 2, while in clear cell renal cell carcinoma and prostate cancer, it functions as a tumor suppressor, with downregulation promoting lipid accumulation and proliferation 4, 5. In cardiovascular disease, increased ALDH9A1 expression associates with reduced calcific aortic valve disease risk through immune modulation, potentially shifting macrophages toward anti-inflammatory M2 phenotypes 6. Clinically, ALDH9A1 deficiency causes synthetic lethality with Fanconi anemia pathway mutations, nominating polyamine-derived aldehydes as endogenous DNA damaging agents in hematologic disease 3. These findings establish ALDH9A1 as a metabolic regulator with distinct therapeutic implications across malignant and cardiovascular pathologies.

Sources cited
1
ALDH9A1 enzymatic properties, substrate specificity, tetrameric structure, and unique inter-domain linker architecture
PMID: 30914451
2
ALDH9A1 generates GABA in hepatocellular carcinoma, supporting Wnt/β-catenin signaling and metastasis
PMID: 39740661
3
ALDH9A1 metabolizes polyamine-derived aldehydes; deficiency causes synthetic lethality with FA pathway mutations
PMID: 40540243
4
ALDH9A1 functions as tumor suppressor in clear cell renal cell carcinoma; deficiency promotes lipid accumulation and proliferation
PMID: 39039052
5
ALDH9A1 acts as tumor suppressor in prostate cancer; negative regulation by C1QBP promotes lipid accumulation
PMID: 40099576
6
Increased ALDH9A1 expression associated with reduced calcific aortic valve disease risk through immune cell modulation
PMID: 39384885
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
Alzheimer diseaseOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
glaucomaOpen Targets
0.29Weak
endocarditisOpen Targets
0.26Weak
smoking initiationOpen Targets
0.24Weak
neuroinflammatory disorderOpen Targets
0.17Weak
open-angle glaucomaOpen Targets
0.14Weak
prostate cancerOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GLUD2Protein interaction98%GLS2Protein interaction98%CYP4A22Protein interaction96%ACOT12Protein interaction96%AKR1A1Protein interaction95%GADL1Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Brain
80%
Heart
71%
Ovary
42%
Lung
35%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
ALDH9A1GLUD2GLS2CYP4A22ACOT12AKR1A1GADL1
PROTEIN STRUCTURE
Preparing viewer…
PDB6QAP · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.51–0.89]
RankingsWhere ALDH9A1 stands among ~20K protein-coding genes
  • #6,047of 20,598
    Most Researched78
  • #7,923of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedALDH9A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The de novo synthesis of GABA and its gene regulatory function control hepatocellular carcinoma metastasis.
PMID: 39740661
Dev Cell · 2025
1.00
2
Kinetic and structural analysis of human ALDH9A1.
PMID: 30914451
Biosci Rep · 2019
0.90
3
N6-methyladenosine-modified ALDH9A1 modulates lipid accumulation and tumor progression in clear cell renal cell carcinoma through the NPM1/IQGAP2/AKT signaling pathway.
PMID: 39039052
Cell Death Dis · 2024
0.80
4
ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.
PMID: 39726306
Discov Med · 2024
0.70
5
Aldehyde dehydrogenases and cell proliferation.
PMID: 22206977
Free Radic Biol Med · 2012
0.60