Apolipoprotein C-II deficiency associated with nonfunctional mutant forms of apolipoprotein C-II.
Two previously unidentified apolipoproteins (apo) designated apo C-II-X and C-II-Y have been found in plasma of homozygotes and obligate heterozygotes of a family with apo C-II deficiency. Because the plasma of homozygotes do not activate lipoprotein lipase, apo C-II-X and C-II-Y are apparently nonfunctional. These apolipoproteins have isoelectric focusing points of 5.15 and 5.54, respectively, compared with 4.88 and 4.74 for the known isomorphs, C-II-1 and C-II-2, respectively. They have approximately similar molecular weights to apo C-II-1 and C-II-2 on two-dimensional sodium dodecyl sulphate-glycerol-polyacrylamide slab gel electrophoresis. They do not form insoluble antigen-antibody complexes with antibodies to apo C-II in single antibody immunodiffusion or electroimmunoassay systems. However, using a double-antibody technique in which immunoblotting is coupled with polyacrylamide isoelectric focusing slab gel electrophoresis, apo C-II-1, C-II-2, C-II-X, and C-II-Y have similar reactivity with antibodies to apo C-II. In this family the presence of apo C-II-X and C-II-Y discriminates obligate heterozygotes from normal subjects.
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency* / Q000235:genetics; D004789:Enzyme Activation; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007163:Immunosorbent Techniques; D007525:Isoelectric Focusing; D008071:Lipoprotein Lipase / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D009154:Mutation
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D008079:Lipoproteins, VLDL; D008071:Lipoprotein Lipase