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The official name of this gene is “abhydrolase domain containing 5.”
ABHD5 is the gene's official symbol. The ABHD5 gene is also known by other names, listed below.
The ABHD5 gene provides instructions for making a protein that turns on (activates) an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides, which are the main source of stored energy in cells. Triglycerides are the major component of cell structures called lipid droplets (also called adiposomes). The ABHD5 protein and the ATGL enzyme are found on the surface of lipid droplets. Once activated, the ATGL enzyme breaks down triglycerides in these structures to provide energy for the body.
The ABHD5 gene belongs to a family of genes called ABHD (abhydrolase domain containing genes).
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 20 mutations in the ABHD5 gene have been found to cause Chanarin-Dorfman syndrome. These mutations impair the ABHD5 protein's ability to activate the ATGL enzyme. Without an active ATGL enzyme, triglycerides within lipid droplets cannot be broken down. As a result, these fats accumulate in various organs and tissues throughout the body, causing the signs and symptoms of Chanarin-Dorfman syndrome.
Cytogenetic Location: 3p21
Molecular Location on chromosome 3: base pairs 43,690,882 to 43,722,724
The ABHD5 gene is located on the short (p) arm of chromosome 3 at position 21.
More precisely, the ABHD5 gene is located from base pair 43,690,882 to base pair 43,722,724 on chromosome 3.
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 ABHD5 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.
cell ; domain ; enzyme ; gene ; lipase ; lipid ; protein ; syndrome ; triglycerides
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.