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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ALDH1L1
aldehyde dehydrogenase 1 family member L1
Chromosome 3 · 3q21.3
NCBI Gene: 10840Ensembl: ENSG00000144908.15HGNC: HGNC:3978UniProt: O75891
88PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
10-formyltetrahydrofolate catabolic processmitochondrioncytosolNADPH regenerationadolescent idiopathic scoliosisCOVID-19mixed connective tissue diseaseandrogenetic alopecia
✦AI Summary

ALDH1L1 is a cytosolic 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide, serving as a key regulatory enzyme controlling one-carbon flux in folate-dependent biosynthetic pathways 1. The gene is predominantly expressed in astrocytes throughout the brain and serves as an astrocyte-selective marker, making it valuable for genetic targeting of astrocytes in vivo 23. In disease contexts, ALDH1L1 shows divergent roles. In cancer, ALDH1L1 is typically downregulated via promoter methylation in malignant tumors and is considered a candidate tumor suppressor; gossypol-mediated inhibition of ALDH1L1 impairs NADPH and ATP production in non-small cell lung cancer cells 14. Conversely, astrocytic ALDH1L1 expression facilitates neuroinflammatory pathways—selective removal of astrocytic APOE4 in ALDH1L1-expressing astrocytes markedly reduced tau-mediated neurodegeneration and pTau pathology, suggesting astrocyte-specific roles in Alzheimer's disease 5. Additionally, ALDH1L1 gene polymorphisms (rs4646733, rs2305225, rs2276731) are associated with increased neural tube defect risk in the Chinese population 6, implicating folate metabolism in developmental neurobiology.

Sources cited
1
ALDH1L1 catalyzes NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2
PMID: 19933275
2
ALDH1L1 catalyzes NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and CO2
PMID: 21238436
3
ALDH1L1 is a regulatory enzyme in folate metabolism that controls one-carbon flux and is downregulated in malignant tumors
PMID: 30362096
4
ALDH1L1-CreERT2 transgenic mice selectively target astrocytes with no neuronal contamination
PMID: 27939582
5
ALDH1L1 promoter drives astrocyte-specific expression, particularly in thalamus
PMID: 29302202
6
Gossypol inhibition of ALDH1L1 blocks NADPH and ATP production in non-small cell lung cancer
PMID: 38917634
7
Removal of astrocytic APOE4 in ALDH1L1-expressing astrocytes reduces tau-mediated neurodegeneration and pTau pathology
PMID: 33831349
8
ALDH1L1 gene polymorphisms rs4646733, rs2305225, and rs2276731 are associated with neural tube defect risk
PMID: 26993122
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.33Weak
COVID-19Open Targets
0.24Weak
mixed connective tissue diseaseOpen Targets
0.23Weak
androgenetic alopeciaOpen Targets
0.15Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
goutOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
alopeciaOpen Targets
0.07Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Posterior polar cataractOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
Partial congenital cataractOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMTProtein interaction95%DHFRProtein interaction95%EPHX2Protein interaction95%GARTProtein interaction95%MTHFD1Protein interaction95%MTRProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Ovary
17%
Heart
12%
Brain
9%
Lung
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ALDH1L1AMTDHFREPHX2GARTMTHFD1MTR
PROTEIN STRUCTURE
Preparing viewer…
PDB2BW0 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.55–0.82]
RankingsWhere ALDH1L1 stands among ~20K protein-coding genes
  • #5,397of 20,598
    Most Researched88
  • #6,968of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedALDH1L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Selective removal of astrocytic APOE4 strongly protects against tau-mediated neurodegeneration and decreases synaptic phagocytosis by microglia.
PMID: 33831349
Neuron · 2021
1.00
2
Neural Circuit-Specialized Astrocytes: Transcriptomic, Proteomic, Morphological, and Functional Evidence.
PMID: 28712653
Neuron · 2017
0.90
3
Interferon regulatory factor-1-expressing astrocytes are epigenetically controlled and exacerbate TBI-associated pathology in mice.
PMID: 40435213
Sci Transl Med · 2025
0.80
4
Structural identification and comprehension of human ALDH1L1-Gossypol complex.
PMID: 38917634
Biochem Biophys Res Commun · 2024
0.70
5
New Transgenic Mouse Lines for Selectively Targeting Astrocytes and Studying Calcium Signals in Astrocyte Processes In Situ and In Vivo.
PMID: 27939582
Neuron · 2016
0.60