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ABHD5  -  abhydrolase domain containing 5

Homo sapiens

Synonyms: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5, Abhydrolase domain-containing protein 5, CDS, CGI-58, CGI58, ...
 
 
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Disease relevance of ABHD5

 

High impact information on ABHD5

  • NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58) [3].
  • CGI-58 contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily [4].
  • We previously localized a gene for a subset of NCIE to chromosome 3 (designated "the NCIE2 locus"), in six families [4].
  • Linkage-disequilibrium analysis of these families, all from the Mediterranean basin, allowed us to refine the NCIE2 locus to an approximately 1.3-Mb region [4].
  • Interestingly, CGI-58 differs from other members of the esterase/lipase/thioesterase subfamily in that its putative catalytic triad contains an asparagine in place of the usual serine residue [4].
 

Biological context of ABHD5

  • CGI-58, a recently identified coactivator of ATGL, stimulates TG hydrolase activity in wild-type and HSL-deficient WAT but not in ATGL-deficient WAT, suggesting that ATGL is the sole target for CGI-58-mediated activation of adipose lipolysis [5].
  • These results suggested that CGI-58 protein is involved in the lipid metabolism of lamellar granules and that defective lipid production in lamellar granules caused by a CGI-58 protein deficiency is involved in the pathogenesis of ichthyosis in Dorfman-Chanarin syndrome [6].
  • Alleles of CGI-58 carrying point mutations associated with CDS fail to activate ATGL [7].
 

Anatomical context of ABHD5

 

Associations of ABHD5 with chemical compounds

References

  1. 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) [Pubmed]
  2. Fat breakdown: A function for CGI-58 (ABHD5) provides a new piece of the puzzle. Yen, C.L., Farese, R.V. Cell metabolism. (2006) [Pubmed]
  3. 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) [Pubmed]
  4. 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) [Pubmed]
  5. 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) [Pubmed]
  6. 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) [Pubmed]
  7. 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) [Pubmed]
  8. 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) [Pubmed]
 
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