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.E437V (Glu437Val) (Glu410Val E410V in the mature protein which do not count signal peptide)
| Title : Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1 - Gin_2012_Hum.Mol.Genet_21_2961 |
| Author(s) : Gin P , Goulbourne CN , Adeyo O , Beigneux AP , Davies BS , Tat S , Voss CV , Bensadoun A , Fong LG , Young SG |
| Ref : Hum Mol Genet , 21 :2961 , 2012 |
| Abstract : Gin_2012_Hum.Mol.Genet_21_2961 |
| ESTHER : Gin_2012_Hum.Mol.Genet_21_2961 |
| PubMedSearch : Gin_2012_Hum.Mol.Genet_21_2961 |
| PubMedID: 22493000 |
| Title : A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia - Previato_1994_J.Lipid.Res_35_1552 |
| Author(s) : Previato L , Guardamagna O , Dugi KA , Ronan R , Talley GD , Santamarina-Fojo S , Brewer HB, Jr. |
| Ref : J Lipid Res , 35 :1552 , 1994 |
| Abstract : Previato_1994_J.Lipid.Res_35_1552 |
| ESTHER : Previato_1994_J.Lipid.Res_35_1552 |
| PubMedSearch : Previato_1994_J.Lipid.Res_35_1552 |
| PubMedID: 7806969 |
| Gene_locus related to this paper: human-LPL |