DefinitionThis section has been translated automatically.
The ALDH3A2 gene (ALDH3A2 stands for: Aldehyde Dehydrogenase 3 Family Member A2) is a protein coding gene located on chromosome 17p11.2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
General informationThis section has been translated automatically.
Aldehyde dehydrogenases play an important role in the detoxification of aldehydes produced, for example, by alcohol metabolism and lipid peroxidation. The gene product encoded by ALDH3A2 catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids.
Mutations in this gene cause Sjögren-Larsson syndrome.
LiteratureThis section has been translated automatically.
- Carney G et al (2004) Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. Hum Mutat 24:186.
- Nojiri K et al. (2021) Impaired Skin Barrier Function Due to Reduced ω-O-Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome. Mol Cell Biol 41:e0035221.
- Rizzo WB et al. (2005) Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 26:1-10.
