Aldh3A2 is a member of the aldehyde dehydrogenase superfamily, a group of NAD(P)(+)-dependent enzymes that catalyze the oxidation of a wide spectrum of aliphatic and aromatic aldehydes. Aldehyde dehydrogenase enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. Aldh3A2 catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Mutations in the Aldh3A2 gene cause Sjogren-Larrson syndrome, an inherited neurocutaneous disorder. Patients with this disorder display ichthyosis, mental retardation and spastic diplegia. The pathogenesis of the cutaneous and neurological symptoms is thought to result from abnormal lipid accumulation in the membranes of skin and brain, the formation of aldehyde Schiff base adducts with amine-containing lipids or proteins, or defective eicosanoid metabolism.
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Protein Aliases: alcohol dehydrogenase family 3, subfamily A2; Aldehyde dehydrogenase 10; aldehyde dehydrogenase 3 family, member A2; aldehyde dehydrogenase 3A2; aldehyde dehydrogenase 4; Aldehyde dehydrogenase family 3 member A2; aldehyde dehydrogenase family 3, subfamily A2; Aldh3a2; Aldh4; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenase
Gene Aliases: ALDH10; ALDH3A2; FALDH; SLS
UniProt ID: (Human) P51648
Entrez Gene ID: (Human) 224