ALDH3A1: Aldehyde Dehydrogenase 3 Family Member A1
A key enzyme in aldehyde detoxification, antioxidant defense, and corneal transparency.
Gene Information Card
| Symbol | ALDH3A1 |
|---|---|
| Full Name | Aldehyde Dehydrogenase 3 Family Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 218 ncbi.nlm.nih.gov/gene/218 |
| Ensembl ID | ENSG00000108370 |
| UniProt ID | P30838 |
| OMIM ID | 100660 |
| HGNC ID | 403 |
| Aliases | ALDH3, ALDHIII, ALDH3A1 |
Description
ALDH3A1 encodes a member of the aldehyde dehydrogenase superfamily, specifically the ALDH3 family. The enzyme catalyzes the oxidation of medium-chain aldehydes, including lipid peroxidation-derived aldehydes such as 4-hydroxynonenal, to their corresponding carboxylic acids. It plays a critical role in detoxification, antioxidant defense, and maintenance of corneal transparency. Mutations in ALDH3A1 are associated with Sjögren-Larsson syndrome-like phenotypes and corneal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren-Larsson syndrome (SLS) | Loss-of-function mutations impair fatty aldehyde oxidation, leading to accumulation of long-chain aldehydes and ichthyosis, spasticity, and intellectual disability. | ClinVar, OMIM |
| Corneal dystrophy (various) | Reduced ALDH3A1 activity in corneal epithelium leads to accumulation of toxic aldehydes and loss of transparency. | UniProt, PubMed |
| Cancer (multiple types) | Altered expression in lung, breast, and ovarian cancers; may influence chemoresistance via aldehyde detoxification. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | Very high |
| Liver | Moderate | Medium |
| Lung | Low | Low |
| Kidney | Low | Low |
| Stomach | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | Moderate expression |
| A549 (lung) | 8.7 | Low expression |
| MCF7 (breast) | 5.3 | Low expression |
| HCT116 (colon) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.943C>T (p.Arg315*) | Nonsense | Rare | Loss of function; associated with SLS |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Reduced enzyme activity; corneal dystrophy |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; SLS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish enzymatic activity, leading to aldehyde accumulation and disease.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004029 – aldehyde dehydrogenase (NAD+) activity | • GO:0004030 – aldehyde dehydrogenase [NAD(P)+] activity |
| • GO:0055114 – oxidation-reduction process | • GO:0005737 – cytoplasm |
| • GO:0005829 – cytosol | • GO:0042802 – identical protein binding |
Pathways
• Aldehyde dehydrogenase pathway (Reactome: R-HSA-71311)
• Metabolism of lipids (Reactome: R-HSA-556833)
• Detoxification of Reactive Oxygen Species (Reactome: R-HSA-3299685)
Protein Summary
ALDH3A1 is a 453-amino acid homodimeric enzyme localized primarily in the cytosol. It catalyzes the NAD(P)+-dependent oxidation of medium-chain aldehydes, especially 4-hydroxynonenal, a toxic byproduct of lipid peroxidation. The protein is highly expressed in the corneal epithelium, where it protects against UV-induced oxidative stress and maintains transparency. It also contributes to drug resistance in cancer cells by detoxifying chemotherapeutic aldehydes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDH3A1 Knockout HEK293 Cell Line | EDJ-KQ3442 | Human | 218 | Details Get a Quote |
| ALDH3A1 Knockout A-549 Cell Line | EDJ-KQ25173 | Human | 218 | Details Get a Quote |
| ALDH3A1 Knockout HCT 116 Cell Line | EDJ-KQ25174 | Human | 218 | Details Get a Quote |
| ALDH3A1 Knockout HeLa Cell Line | EDJ-KQ25175 | Human | 218 | Details Get a Quote |
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