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ALDH1A1 Gene
ALDH1A1 Gene
Introduction
Aldh1A1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
ALDH1A1 Gene
Introduction
Aldh1A1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@jacobs2013]
<div class="infobox-header">ALDH1A1</div> [@galter2010]
<div class="infobox-row"><span class="infobox-label">Gene Symbol</span><span class="infobox-value">ALDH1A1</span></div> [@maeda2011]
<div class="infobox-row"><span class="infobox-label">Full Name</span><span class="infobox-value">Aldehyde Dehydrogenase 1 Family Member A1</span></div> [@edenberg2014]
<div class="infobox-row"><span class="infobox-label">Chromosomal Location</span><span class="infobox-value">9q21.33</span></div>
<div class="infobox-row"><span class="infobox-label">NCBI Gene ID</span><span class="infobox-value"><a href="https://www.ncbi.nlm.nih.gov/gene/216" target="_blank">216</a></span></div>
<div class="infobox-row"><span class="infobox-label">OMIM</span><span class="infobox-value"><a href="https://www.omim.org/entry/171255" target="_blank">171255</a></span></div>
<div class="infobox-row"><span class="infobox-label">Ensembl ID</span><span class="infobox-value"><a href="https://ensembl.org/Homo_sapiens/ENSG00000153208" target="_blank">ENSG00000153208</a></span></div>
<div class="infobox-row"><span class="infobox-label">UniProt ID</span><span class="infobox-value"><a href="https://www.uniprot.org/uniprot/P00342" target="_blank">P00342</a></span></div>
<div class="infobox-row"><span class="infobox-label">Associated Diseases</span><span class="infobox-value">[Parkinson's Disease](/diseases/parkinsons-disease), Sjögren-Larsson Syndrome, Alcohol Sensitivity</span></div>
</div>
Overview
ALDH1A1 Gene is involved in biological pathways relevant to neurodegenerative diseases. It plays important roles in neuronal function, cellular signaling, ion transport, protein homeostasis, or stress response mechanisms.
Dysregulation or mutations in this gene contribute to the pathogenesis of [Alzheimer's disease](/diseases/alzheimers-disease), [Parkinson's disease](/diseases/parkinsons-disease), and related neurodegenerative disorders.
Function
ALDH1A1 encodes aldehyde dehydrogenase 1A1, a cytosolic enzyme that catalyzes the oxidation of aldehydes to carboxylic acids. It plays critical roles in detoxification of lipid peroxidation products (such as 4-hydroxynonenal), retinol metabolism, and conversion of retinol to retinoic acid.[@wey2012]
In the brain, ALDH1A1 is particularly important in dopaminergic [neurons](/entities/neurons) where it protects against aldehyde toxicity generated during dopamine metabolism. The enzyme also produces retinoic acid, which is essential for neuronal development and plasticity.[@jacobs2013]
Disease Associations
Parkinson's Disease
ALDH1A1 deficiency has been implicated in Parkinson's disease pathogenesis. Reduced ALDH1A1 activity in the substantia nigra of PD patients leads to accumulation of toxic aldehydes, contributing to dopaminergic neuron death. ALDH1A1 is also a marker for dopaminergic neuron progenitors in stem cell therapies.[@galter2010]
Sjögren-Larsson Syndrome
Mutations in ALDH1A1 (along with ALDH1A2 and ALDH2) can contribute to this syndrome, though it is primarily caused by ALDH3A2 mutations. The syndrome involves ichthyosis, neurological dysfunction, and retinal abnormalities.[@maeda2011]
Alcohol Sensitivity
ALDH1A1 polymorphisms affect alcohol metabolism and may influence alcohol sensitivity and addiction risk. The enzyme participates in the oxidation of acetaldehyde produced by alcohol dehydrogenase.[@edenberg2014]
Expression
ALDH1A1 is expressed in multiple brain regions:
- Substantia nigra pars compacta - dopaminergic neurons (high expression)
- Ventral tegmental area - dopaminergic neurons
- Striatum - medium spiny neurons
- Retina - retinal pigment epithelium
- Liver - hepatocytes
ALDH1A1 is also expressed in neural stem cells and is used as a marker for dopaminergic neuron differentiation.[^6]
Key Publications
See Also
- [Dopamine metabolism](/mechanisms/dopamine-metabolism)
- [4-Hydroxynonenal](/entities/4-hydroxynonenal)
- [Retinoic acid signaling](/mechanisms/retinoic-acid-signaling)
- [Parkinson's disease pathogenesis](/mechanisms/parkinsons-pathogenesis)
- [ALDH1A1 Protein](/proteins/aldh1a1-protein)
Background
The study of Aldh1A1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
References
Pathway Diagram
The following diagram shows the key molecular relationships involving ALDH1A1 Gene discovered through SciDEX knowledge graph analysis:
▸Metadataorigin_type: v1_polymorphic_backfill
| slug | genes-aldh1a1 |
| kg_node_id | ALDH1A1 |
| entity_type | gene |
| origin_type | v1_polymorphic_backfill |
| source_table | wiki_pages |
| wiki_page_id | wp-47dc2b6b875f |
| __merged_from | {'merged_at': '2026-05-13', 'unprefixed_id': 'genes-aldh1a1'} |
| _schema_version | 1 |
No provenance edges found
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