Background information
Aldehyde dehydrogenases (ALDHs) mediate the NADP+-dependent oxidation of aldehydes into acids and play an important role in the detoxification of alcohol-derived acetaldehyde, as well as in lipid peroxidation and in the metabolism of corticosteroids, biogenic amines and neurotransmitters. ALDH3A2 (aldehyde dehydrogenase 3 family, member A2), also known as SLS, FALDH or ALDH10, is a 485 amino acid single-pass membrane protein that localizes to the cytoplasmic side of the endoplasmic reticulum and belongs to the aldehyde dehydrogenase family. Expressed in a variety of tissues, including liver, heart, lung, brain, kidney and placenta, ALDH3A2 catalyzes the NAD+-dependent oxidation of long-chain aliphatic aldehydes to fatty acids, a process that is necessary for detoxification and lipid metabolism. Defects in the gene encoding ALDH3A2 are the cause of Sjoegren-Larsson syndrome (SLS), an autosomal recessive neurocutaneous disorder characterized by severe mental retardation, seizures and speech defects. Multiple isoforms of ALDH3A2 exist due to alternative splicing events.
