ALDH3A1 Chromosome 17

Aldehyde dehydrogenase 3 family member A1
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS761232139 Health Risk Likely pathogenic Keratoconus, Keratoconus
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