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.
Health Conditions Related to Genetic Changes
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.More About This Health Condition
Other Names for This Gene
- CGI58 protein
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. Cell Metab. 2006 May;3(5):309-19. doi: 10.1016/j.cmet.2006.03.005. Citation on PubMed
- Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2. Citation on PubMed or Free article on PubMed Central
- Yen CL, Farese RV Jr. Fat breakdown: a function for CGI-58 (ABHD5) provides a new piece of the puzzle. Cell Metab. 2006 May;3(5):305-7. doi: 10.1016/j.cmet.2006.04.001. Citation on PubMed
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