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.1244A>G Exon 6 Phenotype (Fish Eye Disease)
| Title : Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease - Rader_1994_J.Clin.Invest_93_321 |
| Author(s) : Rader DJ , Ikewaki K , Duverger N , Schmidt H , Pritchard H , Frohlich J , Clerc M , Dumon MF , Fairwell T , Zech L , Santamarina-Fojo S , Brewer HB, Jr. , et al. |
| Ref : J Clinical Investigation , 93 :321 , 1994 |
| Abstract : Rader_1994_J.Clin.Invest_93_321 |
| ESTHER : Rader_1994_J.Clin.Invest_93_321 |
| PubMedSearch : Rader_1994_J.Clin.Invest_93_321 |
| PubMedID: 8282802 |