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.827T>A, M276K with numbering including signal peptide
| Title : Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence - Strom_2011_Ultrastruct.Pathol_35_139 |
| Author(s) : Strom EH , Sund S , Reier-Nilsen M , Dorje C , Leren TP |
| Ref : Ultrastruct Pathol , 35 :139 , 2011 |
| Abstract : |
| PubMedSearch : Strom_2011_Ultrastruct.Pathol_35_139 |
| PubMedID: 21323422 |
| Gene_locus related to this paper: human-LCAT |
| Title : An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease - Skretting_1992_Biochem.Biophys.Res.Commun_182_583 |
| Author(s) : Skretting G , Prydz H |
| Ref : Biochemical & Biophysical Research Communications , 182 :583 , 1992 |
| Abstract : |
| PubMedSearch : Skretting_1992_Biochem.Biophys.Res.Commun_182_583 |
| PubMedID: 1571050 |
| Gene_locus related to this paper: human-LCAT |
| Title : The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. - Skretting_1992_FEBS.Lett_309_307 |
| Author(s) : Skretting G , Blomhoff JP , Solheim J , Prydz H |
| Ref : FEBS Letters , 309 :307 , 1992 |
| Abstract : |
| PubMedSearch : Skretting_1992_FEBS.Lett_309_307 |
| PubMedID: 1516702 |
| Gene_locus related to this paper: human-LCAT |