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Mutation Report for: Q190X_human-ABHD5

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|c.C568T p.Q190X Neutral lipid storage disease with fatty liver and cholestasis
    Kinetic parameters|none

      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: Neutral lipid storage disease with fatty liver and cholestasis
      Igal RA, Rhoads JM, Coleman RA
      Ref: J Pediatr Gastroenterol Nutr, 25:541, 1997 : PubMed


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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