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Description

1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC:2.3.1.51, UniProt Q9DBL9, also known as Abhydrolase domain-containing protein 5, CGI-58, Comparative gene identification-58, Lipid droplet-binding protein CGI-58) is encoded by the Abhd5 (also known as CDS, IECN5, NCIE2, 1300003D03Rik, 2010002J10Rik) gene in murine species (Gene ID 67469). The comparative gene identification-58 (CGI-58) functions as a cofactor of adipose triglyceride lipase/ATGL-mediated triacylglycerol (TG) hydrolytic activity, which is essential for efficient catabolism of cellular TG stores. Mutations in the genes coding for ATGL or CGI-58 in humans cause neutral lipid storage disease characterized by TG accumulation in multiple tissues. CGI-58 gene mutations provoke severe ichthyosis and hepatosteatosis in humans and mice. Mice lacking CGI-58 exclusively in muscle (CGI-58KOM) show TG accumulation in both skeletal and cardiac muscle tissues and develop severe cardiac steatosis and cardiomyopathy as a result of impaired TG catabolism and mitochondrial fatty acid oxidation. Immunocytochemistry analysis reveals diffuse cytoplasmic staining of CGI-58 in 3T3-L1 preadipocytes, while CGI-58 staining is found exclusively on the surface of lipid droplets in differentiated 3T3-L1 adipocytes. CGI-58 binds to lipid droplets by interacting with perilipin C-terminal sequence, while activation of cellular PKA disperses CGI-58 localization from the lipid droplets to cytosol.