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.760G>C Exon 6 Phenotype (LCATD)
| Title : Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5\% of cases with very low serum HDL cholesterol levels - Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591 |
| Author(s) : Miettinen HE , Gylling H , Tenhunen J , Virtamo J , Jauhiainen M , Huttunen JK , Kantola I , Miettinen TA , Kontula K |
| Ref : Arterioscler Thromb Vasc Biol , 18 :591 , 1998 |
| Abstract : |
| PubMedSearch : Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591 |
| PubMedID: 9555865 |