The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.
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Protein Aliases: 26g turgor protein homolog; aldehyde dehydrogenase 7 family, member A1; Aldehyde dehydrogenase family 7 member A1; Alpha-AASA dehydrogenase; Alpha-aminoadipic semialdehyde dehydrogenase; Antiquitin-1; ATQ1; Betaine aldehyde dehydrogenase; Delta1-piperideine-6-carboxylate dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenease; P6c dehydrogenase; PDE
Gene Aliases: Ald7a1; ALDH7A1; ATQ1; D18Wsu181e; EPD; PDE