ABHD5 gene

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.

Tests Listed in the Genetic Testing Registry

• Tests of ABHD5

Scientific Articles on PubMed

• PubMed

Catalog of Genes and Diseases from OMIM

• ABHYDROLASE DOMAIN-CONTAINING PROTEIN 5, LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE; ABHD5

Gene and Variant Databases

• NCBI Gene
• ClinVar

• 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