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.167T>C Exon 2 Phenotype (LCATD)
| Title : Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity - Peelman_1999_J.Lipid.Res_40_59 |
| Author(s) : Peelman F , Verschelde JL , Vanloo B , Ampe C , Labeur C , Tavernier J , Vandekerckhove J , Rosseneu M |
| Ref : J Lipid Res , 40 :59 , 1999 |
| Abstract : Peelman_1999_J.Lipid.Res_40_59 |
| ESTHER : Peelman_1999_J.Lipid.Res_40_59 |
| PubMedSearch : Peelman_1999_J.Lipid.Res_40_59 |
| PubMedID: 9869650 |