ALDH3A2

Chr 17AR

aldehyde dehydrogenase 3 family member A2

Also known as: ALDH10, FALDH, SLS

NCBI Gene: 224 ENSG00000072210 UniProt: P51648 OMIM: 609523

The protein catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids, functioning in aldehyde detoxification from alcohol metabolism and lipid peroxidation. Mutations cause Sjögren-Larsson syndrome through an autosomal recessive inheritance pattern. The pathogenic mechanism involves loss of function, leading to toxic aldehyde accumulation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Sjogren-Larsson syndromeMIM #270200

UniProtSjoegren-Larsson syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.82

LOEUF

LOF

Mechanism· G2P