Gene Review:
ABHD5 - abhydrolase domain containing 5
Homo sapiens
Synonyms:
1-acylglycerol-3-phosphate O-acyltransferase ABHD5, Abhydrolase domain-containing protein 5, CDS, CGI-58, CGI58, ...
- Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. Srinivasan, R., Hadzić, N., Fischer, J., Knisely, A.S. J. Pediatr. (2004)
- Fat breakdown: A function for CGI-58 (ABHD5) provides a new piece of the puzzle. Yen, C.L., Farese, R.V. Cell metabolism. (2006)
- The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Fischer, J., Lef??vre, C., Morava, E., Mussini, J.M., Lafor??t, P., Negre-Salvayre, A., Lathrop, M., Salvayre, R. Nat. Genet. (2007)
- Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Lefèvre, C., Jobard, F., Caux, F., Bouadjar, B., Karaduman, A., Heilig, R., Lakhdar, H., Wollenberg, A., Verret, J.L., Weissenbach, J., Ozgüc, M., Lathrop, M., Prud'homme, J.F., Fischer, J. Am. J. Hum. Genet. (2001)
- Adipose Triglyceride Lipase and Hormone-sensitive Lipase Are the Major Enzymes in Adipose Tissue Triacylglycerol Catabolism. Schweiger, M., Schreiber, R., Haemmerle, G., Lass, A., Fledelius, C., Jacobsen, P., Tornqvist, H., Zechner, R., Zimmermann, R. J. Biol. Chem. (2006)
- Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. Akiyama, M., Sawamura, D., Nomura, Y., Sugawara, M., Shimizu, H. J. Invest. Dermatol. (2003)
- Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. Lass, A., Zimmermann, R., Haemmerle, G., Riederer, M., Schoiswohl, G., Schweiger, M., Kienesberger, P., Strauss, J.G., Gorkiewicz, G., Zechner, R. Cell metabolism. (2006)
- Chinese hamster ovary K2 cell lipid droplets appear to be metabolic organelles involved in membrane traffic. Liu, P., Ying, Y., Zhao, Y., Mundy, D.I., Zhu, M., Anderson, R.G. J. Biol. Chem. (2004)