|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “aldehyde dehydrogenase 3 family, member A2.”
ALDH3A2 is the gene's official symbol. The ALDH3A2 gene is also known by other names, listed below.
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.
The ALDH3A2 gene belongs to a family of genes called ALDH (aldehyde dehydrogenases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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
Molecular Location on chromosome 17: base pairs 19,648,135 to 19,677,595
The ALDH3A2 gene is located on the short (p) arm of chromosome 17 at position 11.2.
More precisely, the ALDH3A2 gene is located from base pair 19,648,135 to base pair 19,677,595 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ALDH3A2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; aldehyde ; aldehydes ; breakdown ; dehydrogenase ; endoplasmic reticulum ; enzyme ; fatty acids ; gene ; ichthyosis ; neurological ; oxidation ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.