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Normal Function
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 a major source of stored energy in cells. Cells primarily store triglycerides in 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
Chanarin-Dorfman syndrome
Several variants (also called mutations) in the ABHD5 gene have been found to cause Chanarin-Dorfman syndrome, a condition in which triglycerides build up in the body. These variants impair the ABHD5 protein's ability to activate the ATGL enzyme. If there is not enough activated ATGL enzyme to break down triglycerides, these fats can accumulate in various organs and tissues throughout the body. Over time, the buildup of triglycerides can damage cells and tissues, leading to the signs and symptoms of Chanarin-Dorfman syndrome.
More About This Health ConditionOther Names for This Gene
- CGI58
- comparative gene identification 58
- IECN2
- NCIE2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Cakmak E, Bagci G. Chanarin-Dorfman Syndrome: A comprehensive review. Liver Int. 2021 May;41(5):905-914. doi: 10.1111/liv.14794. Epub 2021 Mar 18. Citation on PubMed
- 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
- Mangukiya NP, Kaleem S, Meghana DR, Ishfaq L, Kochhar G, Mathew B, Pulekar S, Lainingwala AC, Parmar MP, Venugopal V. Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder. Cureus. 2023 Aug 21;15(8):e43889. doi: 10.7759/cureus.43889. eCollection 2023 Aug. Citation on PubMed
- Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis. 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. Citation on PubMed
- 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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