About
Site Map
Contact Us
Search
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genes
>
ABHD5
>
References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ABHD5
gene.
Entrez
Gene
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.
PubMed citation
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc 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. Epub 2001 Oct 2.
PubMed citation
OMIM:
ABHYDROLASE DOMAIN-CONTAINING
5
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.
PubMed citation
Reviewed: November 2008
Published: May 13, 2013