Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
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.C445Y Cys445Tyr (C418Y Cys418Tyr in the mature protein which do not count signal peptide) C445(C418Y) and E448K(E421K), abolish LPL's ability to bind to GPIHBP1 without interfering with LPL catalytic activity or binding to heparin. rs118204079
| Title : Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1 - Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980 |
| Author(s) : Voss CV , Davies BS , Tat S , Gin P , Fong LG , Pelletier C , Mottler CD , Bensadoun A , Beigneux AP , Young SG |
| Ref : Proc Natl Acad Sci U S A , 108 :7980 , 2011 |
| Abstract : Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980 |
| ESTHER : Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980 |
| PubMedSearch : Voss_2011_Proc.Natl.Acad.Sci.U.S.A_108_7980 |
| PubMedID: 21518912 |
| Gene_locus related to this paper: human-LPL |
| Title : A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase - Henderson_1996_Biochem.Biophys.Res.Commun_227_189 |
| Author(s) : Henderson HE , Hassan F , Marais D , Hayden MR |
| Ref : Biochemical & Biophysical Research Communications , 227 :189 , 1996 |
| Abstract : Henderson_1996_Biochem.Biophys.Res.Commun_227_189 |
| ESTHER : Henderson_1996_Biochem.Biophys.Res.Commun_227_189 |
| PubMedSearch : Henderson_1996_Biochem.Biophys.Res.Commun_227_189 |
| PubMedID: 8858123 |