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Mutation Report for: Q130P_human-ABHD5

Q130P_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Q130P Gln130Pro c.389A>C In a family from Algeria with Chanarin-Dorfman syndrome Lefevre et al. (2001) identified a homozygous 389A-C mutation in exon 3.Yamaguchi et al. (2004) found that expression of the corresponding mutation in rat in 3 different cell lines caused mistargeting of Cgi58 away from lipid droplets and toward a diffuse cytoplasmic distribution. The mutant protein did not interact with perilipin or colocalize with perilipin on lipid droplets rs28939077
    Kinetic parameters|none


    References:
      Title: ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production
      Vieyres G, Welsch K, Gerold G, Gentzsch J, Kahl S, Vondran FW, Kaderali L, Pietschmann T
      Ref: PLoS Pathog, 12:e1005568, 2016 : PubMed

              

      Title: CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid
      Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R
      Ref: Journal of Biological Chemistry, 283:24525, 2008 : PubMed

              

      Title: 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 JG, Gorkiewicz G, Zechner R
      Ref: Cell Metab, 3:309, 2006 : PubMed

              

      Title: CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome
      Yamaguchi T, Omatsu N, Matsushita S, Osumi T
      Ref: Journal of Biological Chemistry, 279:30490, 2004 : PubMed

              

      Title: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
      Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL and Fischer J <4 more author(s)>
      Ref: American Journal of Human Genetics, 69:1002, 2001 : PubMed

              




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