Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : NOVEMBER-15-2006
Comment :
c.C568T p.Q190X Neutral lipid storage disease with fatty liver and cholestasis
| Title : Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome - Lass_2006_Cell.Metab_3_309 |
| Author(s) : 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 |
| Abstract : |
| PubMedSearch : Lass_2006_Cell.Metab_3_309 |
| PubMedID: 16679289 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Neutral lipid storage disease with fatty liver and cholestasis - |
| Author(s) : Igal RA , Rhoads JM , Coleman RA |
| Ref : J Pediatr Gastroenterol Nutr , 25 :541 , 1997 |
| PubMedID: 9360211 |