V46E_human-LCAT

General

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.209T>A Exon 2 Phenotype (Fish Eye Disease)

References (1)

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