ALDH3A2 gene

aldehyde dehydrogenase 3 family member A2

The ALDH3A2 gene is a member of the aldehyde dehydrogenase (ALDH) gene family. Genes in this family provide instructions for producing enzymes that alter molecules called aldehydes. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). This enzyme is involved in the breakdown of fats, specifically the breakdown of molecules called fatty aldehydes to fatty acids. This conversion of molecules is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy.

The FALDH enzyme is found in most tissues, but its activity (expression) is highest in the liver. Within cells, the FALDH enzyme is located in the endoplasmic reticulum, a structure involved in protein processing and transport.

At least 80 mutations in the ALDH3A2 gene have been found to cause Sjögren-Larsson syndrome, a condition characterized by dry, scaly skin (ichthyosis); neurological abnormalities; and eye problems. Many of these mutations change single protein building blocks (amino acids) in the FALDH enzyme. The gene mutations that cause Sjögren-Larsson syndrome lead to the production of a FALDH enzyme that is unable to break down fatty aldehyde molecules. As a result, fats that are not broken down can build up in cells. In all affected tissues, excess fat accumulation interferes with the normal formation of protective membranes or materials that are necessary for the body to function normally. These abnormalities underlie the characteristic signs and symptoms of Sjögren-Larsson syndrome.

Cytogenetic Location: 17p11.2, which is the short (p) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 19,648,136 to 19,677,596 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

  • aldehyde dehydrogenase 3 family, member A2
  • aldehyde dehydrogenase 10
  • aldehyde dehydrogenase family 3 member A2
  • ALDH10
  • fatty aldehyde dehydrogenase
  • microsomal aldehyde dehydrogenase