ALDH3A1 Chromosome 17
Aldehyde dehydrogenase 3 family member A1
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What This Gene Does
Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000108602
Associated Conditions (1)
Keratoconus
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761232139 | Health Risk | Likely pathogenic | Keratoconus, Keratoconus |