Gene Locus : human-LIPG
Mode of mutation : Natural mutant
Disease :
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.G26S Gly26Ser.354G>A rs9963243 While the catalytic-specific activity of G26S EL is similar to WT EL, its secretion is markedly reduced.
| Title : A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis - Brown_2009_J.Lipid.Res_50_1910 |
| Author(s) : Brown RJ , Edmondson AC , Griffon N , Hill TB , Fuki IV , Badellino KO , Li M , Wolfe ML , Reilly MP , Rader DJ |
| Ref : J Lipid Res , 50 :1910 , 2009 |
| Abstract : Brown_2009_J.Lipid.Res_50_1910 |
| ESTHER : Brown_2009_J.Lipid.Res_50_1910 |
| PubMedSearch : Brown_2009_J.Lipid.Res_50_1910 |
| PubMedID: 19411705 |
| Gene_locus related to this paper: human-LIPG |