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 ALDH7A1 gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride.
Synonyms: Antiquitin-1, Aldehyde dehydrogenase family 7 member A1, Delta1-piperideine-6-carboxylate dehydrogenease, P6c dehydrogenase, Alpha-aminoadipic semialdehyde dehydrogenase, Short=Alpha-AASA dehydrogenase, ALDH7A1, ATQ1