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 : c.490C>T Exon 4 Phenotype (LCATD)(g.501 C>T)
| Title : Point mutation (C to T) of the LCAT gene resulting in R140C substitution - Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| Author(s) : Hirashio S , Izumi K , Ueno T , Arakawa T , Naito T , Taguchi T , Yorioka N |
| Ref : J Atheroscler Thromb , 17 :1297 , 2010 |
| Abstract : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| ESTHER : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| PubMedSearch : Hirashio_2010_J.Atheroscler.Thromb_17_1297 |
| PubMedID: 20938102 |
| 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 : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| ESTHER : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| PubMedSearch : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| PubMedID: 15994445 |