| Modification Notes |
Aldehyde dehydrogenases (ALDHs) mediate the NADP+-dependent oxidation of aldehydes into acids and play an important role in the detoxification of alcohol-derived acetaldehyde, as well as in lipid peroxidation and in the metabolism of corticosteroids, biogenic amines and neurotransmitters. Antiquitin, also known as ALDH7A1 (aldehyde dehydrogenase 7 family, member A1), ATQ1, EPD or PDE, is a 539 amino acid protein that is highly expressed in ovary, heart, eye, kidney and ear tissue and plays an important role in the detoxification of lipid peroxidation- and alcohol metabolism-related aldehydes. Mutations in the gene encoding Antiquitin are the cause of pyridoxine-dependent epilepsy (PDE), a rare disorder that is characterized by seizures that begin at infancy and involve muscle rigidity, convulsions and loss of consciousness. Additionally, PDE is associated with poor muscle tone, hypothermia and irritability. |