Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hepatic triglyceride lipase Deficiency
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.V95M Val95Met c.283 G>A (p.V73M Val73Met in the mature protein without the 22 amino-acids of signal peptide) rs6078
| Title : Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia - Plengpanich_2009_Metabolism_58_1178 |
| Author(s) : Plengpanich W , Siriwong S , Khovidhunkit W |
| Ref : Metabolism , 58 :1178 , 2009 |
| Abstract : Plengpanich_2009_Metabolism_58_1178 |
| ESTHER : Plengpanich_2009_Metabolism_58_1178 |
| PubMedSearch : Plengpanich_2009_Metabolism_58_1178 |
| PubMedID: 19428034 |
| Gene_locus related to this paper: human-LIPC |
| Title : Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension - Kokubo_2006_Hypertens.Res_29_611 |
| Author(s) : Kokubo Y , Tomoike H , Tanaka C , Banno M , Okuda T , Inamoto N , Kamide K , Kawano Y , Miyata T |
| Ref : Hypertens Res , 29 :611 , 2006 |
| Abstract : Kokubo_2006_Hypertens.Res_29_611 |
| ESTHER : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedSearch : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedID: 17137217 |
| Gene_locus related to this paper: human-LIPC |
| Title : Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors - Morabia_2003_Hum.Mol.Genet_12_2733 |
| Author(s) : Morabia A , Cayanis E , Costanza MC , Ross BM , Flaherty MS , Alvin GB , Das K , Gilliam TC |
| Ref : Hum Mol Genet , 12 :2733 , 2003 |
| Abstract : Morabia_2003_Hum.Mol.Genet_12_2733 |
| ESTHER : Morabia_2003_Hum.Mol.Genet_12_2733 |
| PubMedSearch : Morabia_2003_Hum.Mol.Genet_12_2733 |
| PubMedID: 12966036 |
| Gene_locus related to this paper: human-LIPC |
| Title : The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia - Hoffer_2000_Atherosclerosis_151_443 |
| Author(s) : Hoffer MJ , Snieder H , Bredie SJ , Demacker PN , Kastelein JJ , Frants RR , Stalenhoef AF |
| Ref : Atherosclerosis , 151 :443 , 2000 |
| Abstract : Hoffer_2000_Atherosclerosis_151_443 |
| ESTHER : Hoffer_2000_Atherosclerosis_151_443 |
| PubMedSearch : Hoffer_2000_Atherosclerosis_151_443 |
| PubMedID: 10924721 |
| Gene_locus related to this paper: human-LIPC |
| Title : Characterization of single-nucleotide polymorphisms in coding regions of human genes - Cargill_1999_Nat.Genet_22_231 |
| Author(s) : Cargill M , Altshuler D , Ireland J , Sklar P , Ardlie K , Patil N , Shaw N , Lane CR , Lim EP , Kalyanaraman N , Nemesh J , Ziaugra L , Friedland L , Rolfe A , Warrington J , Lipshutz R , Daley GQ , Lander ES |
| Ref : Nat Genet , 22 :231 , 1999 |
| Abstract : Cargill_1999_Nat.Genet_22_231 |
| ESTHER : Cargill_1999_Nat.Genet_22_231 |
| PubMedSearch : Cargill_1999_Nat.Genet_22_231 |
| PubMedID: 10391209 |
| Gene_locus related to this paper: human-LIPC |