Antiquitin 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. Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride. Four additional human antiquitin-like sequences, all of which are 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; aldehyde dehydrogenase family 7, member A1; Alpha-AASA dehydrogenase; Alpha-aminoadipic semialdehyde dehydrogenase; Antiquitin-1; Betaine aldehyde dehydrogenase; Delta1-piperideine-6-carboxylate dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenease; P6c dehydrogenase
Gene Aliases: Ald7a1; ALDH7A1; antiquitin; ATQ1; D18Wsu181e; EPD; PDE