ALDH7A1

Aldehyde dehydrogenase 7 family, member A1 also known as ALDH7A1 or antiquitin is an is_associated_with::enzyme that in humans is encoded by the ALDH7A1 is_associated_with::gene.

Function
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 is_associated_with::aldehydes generated by alcohol metabolism and is_associated_with::lipid peroxidation. In addition, ALDH7A1 plays a role in protecting cells and tissues from the damaging effects of osmotic stress, presumably through the generation of osmolytes. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein.

Antiquitin functions as an aldehyde dehydrogenase in the is_associated_with::pipecolic acid pathway of is_associated_with::lysine is_associated_with::catabolism.

Clinical significance
Mutations in this gene cause is_associated_with::pyridoxine-dependent epilepsy, which involves a combination of various seizure types that do not respond to standard anticonvulsants, but are treatable via administration of pyridoxine hydrochloride.