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.L300del Leu300del c.970-972del, deletion of a leu (L324del Leu324del with numbering including signal peptide)
| Title : Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis - Klein_1993_J.Clin.Invest_92_479 |
| Author(s) : Klein HG , Santamarina-Fojo S , Duverger N , Clerc M , Dumon MF , Albers JJ , Marcovina S , Brewer HB, Jr. |
| Ref : J Clinical Investigation , 92 :479 , 1993 |
| Abstract : Klein_1993_J.Clin.Invest_92_479 |
| ESTHER : Klein_1993_J.Clin.Invest_92_479 |
| PubMedSearch : Klein_1993_J.Clin.Invest_92_479 |
| PubMedID: 8326012 |