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.538T>A Exon 5 Phenotype (LCATD)
| Title : Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn) - Klein_1993_J.Lipid.Res_34_49 |
| Author(s) : Klein HG , Lohse P , Duverger N , Albers JJ , Rader DJ , Zech LA , Santamarina-Fojo S , Brewer HB, Jr. |
| Ref : J Lipid Res , 34 :49 , 1993 |
| Abstract : Klein_1993_J.Lipid.Res_34_49 |
| ESTHER : Klein_1993_J.Lipid.Res_34_49 |
| PubMedSearch : Klein_1993_J.Lipid.Res_34_49 |
| PubMedID: 8445342 |