The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty three tests were carried out on mutant mice but no significant abnormalities were observed.
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Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M et al. (May 2006). "Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome". Cell Metabolism3 (5): 309–19. doi:10.1016/j.cmet.2006.03.005. PMID16679289.
Yamaguchi T, Omatsu N, Morimoto E, Nakashima H, Ueno K, Tanaka T et al. (May 2007). "CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation". Journal of Lipid Research48 (5): 1078–89. doi:10.1194/jlr.M600493-JLR200. PMID17308334.
Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L et al. (Sep 2007). "A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome". The Journal of Investigative Dermatology127 (9): 2273–6. doi:10.1038/sj.jid.5700860. PMID17495960.
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