ALDH3A1

Chr 17

aldehyde dehydrogenase 3 family member A1

Also known as: ALDH3, ALDHIII

NCBI Gene: 218 ENSG00000108602 UniProt: P30838

The enzyme oxidizes aromatic and medium-chain aldehydes to corresponding acids and comprises about 50% of corneal epithelial soluble proteins, playing a role in protecting the cornea from UV-induced oxidative damage. Biallelic mutations cause autosomal recessive microphthalmia with coloboma and other eye abnormalities. The gene shows low constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance requiring biallelic mutations for disease.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.53

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)