ALDH3A2

ALDH3A2, also known as aldehyde dehydrogenase 3 family, member A2, is an enzyme that in humans is encoded by the ALDH3A2 gene. It is a member of the aldehyde dehydrogenase superfamily and is involved in the oxidation of aldehydes to carboxylic acids. This enzyme plays a crucial role in the detoxification of various aldehydes, including acetaldehyde and formaldehyde.

The ALDH3A2 gene is located on chromosome 17 and is composed of 9 exons. It is highly expressed in tissues such as the cornea, lens, and retina of the eye, as well as in the liver and kidney. The ALDH3A2 enzyme has a unique N-terminal domain that distinguishes it from other members of the ALDH family.

Mutations in the ALDH3A2 gene have been associated with several disorders, including corneal endothelial dystrophy and keratitis. This condition is characterized by corneal edema and vision loss. Some populations, such as people of Scandinavian and German descent, have a higher incidence of ALDH3A2-related disorders due to genetic predisposition.

Research has also shown that the ALDH3A2 enzyme is involved in the metabolism of certain medications, such as carbonyl-containing compounds. Studies have investigated the potential toxicity of these compounds when oxidized by ALDH3A2. Overall, ALDH3A2 plays a significant role in the detoxification of various substances and is an important gene in human health and disease.