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.503A>G Exon 4 Phenotype (Fish Eye Disease)
| Title : A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease - Contacos_1996_J.Lipid.Res_37_35 |
| Author(s) : Contacos C , Sullivan DR , Rye KA , Funke H , Assmann G |
| Ref : J Lipid Res , 37 :35 , 1996 |
| Abstract : Contacos_1996_J.Lipid.Res_37_35 |
| ESTHER : Contacos_1996_J.Lipid.Res_37_35 |
| PubMedSearch : Contacos_1996_J.Lipid.Res_37_35 |
| PubMedID: 8820100 |