ALDH3A2

1. ALDH3A2

ALDH3A2 is a gene that encodes the enzyme aldehyde dehydrogenase 3 family member A2, which is involved in the metabolism of aldehydes. This enzyme plays a crucial role in the oxidation of long-chain aliphatic aldehydes to their corresponding carboxylic acids, a process important for lipid metabolism and detoxification.

Function

ALDH3A2 is part of the aldehyde dehydrogenase (ALDH) superfamily, which is responsible for the oxidation of aldehydes to carboxylic acids. This reaction is important for the detoxification of aldehydes generated during alcohol metabolism, lipid peroxidation, and other metabolic processes. The enzyme encoded by ALDH3A2 is particularly important in the metabolism of fatty aldehydes derived from the breakdown of sphingolipids and other lipid molecules.

Clinical Significance

Mutations in the ALDH3A2 gene are associated with Sjögren-Larsson syndrome, a rare autosomal recessive disorder characterized by ichthyosis, neurological abnormalities, and intellectual disability. This condition results from the accumulation of fatty aldehydes due to the deficient activity of the ALDH3A2 enzyme, leading to toxic effects in various tissues.

Genetic Information

The ALDH3A2 gene is located on chromosome 17p11.2. It consists of several exons and encodes a protein that is expressed in various tissues, including the skin, brain, and liver. The enzyme is localized in the endoplasmic reticulum, where it participates in lipid metabolism.

Research and Developments

Research on ALDH3A2 has focused on understanding its role in lipid metabolism and its involvement in Sjögren-Larsson syndrome. Studies have explored potential therapeutic approaches to compensate for the enzyme deficiency, including gene therapy and enzyme replacement strategies.

Also see

• Aldehyde dehydrogenase
• Sjögren-Larsson syndrome
• Lipid metabolism
• Chromosome 17 (human)