Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.
We have recreated and expressed two known natural mutations within the LCAT gene which were reported on both alleles in a single case of familial LCAT deficiency. We demonstrate that the Ala-93-->Thr mutation is responsible for the biochemical defect while the Arg-158-->Cys mutation is a co-inherited natural polymorphism of LCAT which results in normal enzyme function.
Hill
J S
JS
University Hospital Lipid Research Group, Department of Pathology, University of British Columbia, Vancouver, Canada.
O
K
K
Wang
X
X
Pritchard
P H
PH
D000409:Alanine; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D003553:Cystine; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D008969:Molecular Sequence Data; D009154:Mutation; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000737:chemistry / Q000235:genetics*; D011110:Polymorphism, Genetic; D013912:Threonine
D008074:Lipoproteins; D013912:Threonine; D003553:Cystine; D001120:Arginine; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D000409:Alanine