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 : No news
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
| Title : ABHD5\/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production - Vieyres_2016_PLoS.Pathog_12_e1005568 |
| Author(s) : Vieyres G , Welsch K , Gerold G , Gentzsch J , Kahl S , Vondran FW , Kaderali L , Pietschmann T |
| Ref : PLoS Pathog , 12 :e1005568 , 2016 |
| Abstract : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| ESTHER : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| PubMedSearch : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| PubMedID: 27124600 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid - Ghosh_2008_J.Biol.Chem_283_24525 |
| Author(s) : Ghosh AK , Ramakrishnan G , Chandramohan C , Rajasekharan R |
| Ref : Journal of Biological Chemistry , 283 :24525 , 2008 |
| Abstract : Ghosh_2008_J.Biol.Chem_283_24525 |
| ESTHER : Ghosh_2008_J.Biol.Chem_283_24525 |
| PubMedSearch : Ghosh_2008_J.Biol.Chem_283_24525 |
| PubMedID: 18606822 |
| Gene_locus related to this paper: human-ABHD5 |
| 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 : Lass_2006_Cell.Metab_3_309 |
| ESTHER : Lass_2006_Cell.Metab_3_309 |
| PubMedSearch : Lass_2006_Cell.Metab_3_309 |
| PubMedID: 16679289 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome - Yamaguchi_2004_J.Biol.Chem_279_30490 |
| Author(s) : Yamaguchi T , Omatsu N , Matsushita S , Osumi T |
| Ref : Journal of Biological Chemistry , 279 :30490 , 2004 |
| Abstract : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| ESTHER : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| PubMedSearch : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| PubMedID: 15136565 |
| Gene_locus related to this paper: ratno-abhd5 , human-ABHD5 |
| Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J |
| Ref : American Journal of Human Genetics , 69 :1002 , 2001 |
| Abstract : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| ESTHER : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedSearch : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedID: 11590543 |
| Gene_locus related to this paper: human-ABHD5 |