Reactivities: | Human |
Presku: | AAP57834 |
Size: | 100ug |
Weight: | 56kDa |
Gene: | 501 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | ATQ1; EPD; PDE |