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.T321M Thr321Met c.1034C>T, (p.T345M Thr345Met with numbering including signal peptide)
| Title : Familial LCAT deficiency: from renal replacement to enzyme replacement - Stoekenbroek_2013_Neth.J.Med_71_29 |
| Author(s) : Stoekenbroek RM , van den Bergh Weerman MA , Hovingh GK , Potter van Loon BJ , Siegert CE , Holleboom AG |
| Ref : Neth J Med , 71 :29 , 2013 |
| Abstract : |
| PubMedSearch : Stoekenbroek_2013_Neth.J.Med_71_29 |
| PubMedID: 23412821 |
| Gene_locus related to this paper: human-LCAT |
| Title : Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease - Funke_1993_J.Clin.Invest_91_677 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Hornby AE , Wiebusch H , Motti C , Hayden MR , Dachet C , Jacotot B , Gerdes U , Faergeman O , Albers JJ , Colleoni N , Catapano A , Frohlich J , Assmann G |
| Ref : J Clinical Investigation , 91 :677 , 1993 |
| Abstract : |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |