Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
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.G23R p.Gly23Arg G->A transition leading to substitution of Gly -5 to Arg in signal peptide probable intracellular retension G-5R (G-2R) in mature protein rs1051339
| Title : Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease - Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480 |
| Author(s) : Evans TD , Zhang X , Clark RE , Alisio A , Song E , Zhang H , Reilly MP , Stitziel NO , Razani B |
| Ref : Arterioscler Thromb Vasc Biol , 39 :2480 , 2019 |
| Abstract : Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480 |
| ESTHER : Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480 |
| PubMedSearch : Evans_2019_Arterioscler.Thromb.Vasc.Biol_39_2480 |
| PubMedID: 31645127 |
| Gene_locus related to this paper: human-LIPA |
| 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 : Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease - Zschenker_2001_J.Lipid.Res_42_1033 |
| Author(s) : Zschenker O , Jung N , Rethmeier J , Trautwein S , Hertel S , Zeigler M , Ameis D |
| Ref : J Lipid Res , 42 :1033 , 2001 |
| Abstract : Zschenker_2001_J.Lipid.Res_42_1033 |
| ESTHER : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedSearch : Zschenker_2001_J.Lipid.Res_42_1033 |
| PubMedID: 11441129 |
| Gene_locus related to this paper: human-LIPA |