Gene Locus : human-LCAT
Mode of mutation : Natural mutant
Disease : Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
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.R147W Arg147Trp c.511C>T (g.1417), R170W Arg170Trp with numbering including signal peptide
| Title : Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency - Gomaraschi_2017_J.Lipid.Res_58_994 |
| Author(s) : Gomaraschi M , Ossoli A , Castelnuovo S , Simonelli S , Pavanello C , Balzarotti G , Arca M , Di Costanzo A , Sampietro T , Vaudo G , Baldassarre D , Veglia F , Franceschini G , Calabresi L |
| Ref : J Lipid Res , 58 :994 , 2017 |
| Abstract : |
| PubMedSearch : Gomaraschi_2017_J.Lipid.Res_58_994 |
| PubMedID: 28351888 |
| Gene_locus related to this paper: human-LCAT |
| Title : The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families - Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| Author(s) : Calabresi L , Pisciotta L , Costantin A , Frigerio I , Eberini I , Alessandrini P , Arca M , Bon GB , Boscutti G , Busnach G , Frasca G , Gesualdo L , Gigante M , Lupattelli G , Montali A , Pizzolitto S , Rabbone I , Rolleri M , Ruotolo G , Sampietro T , Sessa A , Vaudo G , Cantafora A , Veglia F , Calandra S , Bertolini S , Franceschini G |
| Ref : Arterioscler Thromb Vasc Biol , 25 :1972 , 2005 |
| Abstract : |
| PubMedSearch : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| PubMedID: 15994445 |
| Title : Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop) - Guerin_1997_Atherosclerosis_131_85 |
| Author(s) : Guerin M , Dachet C , Goulinet S , Chevet D , Dolphin PJ , Chapman MJ , Rouis M |
| Ref : Atherosclerosis , 131 :85 , 1997 |
| Abstract : |
| PubMedSearch : Guerin_1997_Atherosclerosis_131_85 |
| PubMedID: 9180249 |
| Title : Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele - Taramelli_1990_Hum.Genet_85_195 |
| Author(s) : Taramelli R , Pontoglio M , Candiani G , Ottolenghi S , Dieplinger H , Catapano A , Albers J , Vergani C , McLean J |
| Ref : Hum Genet , 85 :195 , 1990 |
| Abstract : |
| PubMedSearch : Taramelli_1990_Hum.Genet_85_195 |
| PubMedID: 2370048 |
| Gene_locus related to this paper: human-LCAT |
| Title : A new case of familial LCAT deficiency - Vergani_1983_Acta.Med.Scand_214_173 |
| Author(s) : Vergani C , Catapano AL , Roma P , Giudici G |
| Ref : Acta Med Scand , 214 :173 , 1983 |
| Abstract : |
| PubMedSearch : Vergani_1983_Acta.Med.Scand_214_173 |
| PubMedID: 6624548 |