JAS:Genes/APOE: Difference between revisions
Created page with "Human apoE is composed of 299 amino acids and mediates tissue uptake of triglyceride-rich lipoproteins through both low-density lipoprotein (LDL) receptor and LDL-receptor-rel..." |
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Latest revision as of 02:27, 10 June 2013
Human apoE is composed of 299 amino acids and mediates tissue uptake of triglyceride-rich lipoproteins through both low-density lipoprotein (LDL) receptor and LDL-receptor-related protein pathways.
High serum concentration of apolipoprotein E (apoE) induces thrombi in intraglomerular capillaries, causing lipoprotein glomerulopathy (LPG). Patients with LPG show nephrotic syndrome and an end-stage renal failure.
Genetic variations at the apoE gene locus code for three different isoforms:
- E2 (wild type) ... defective in receptor binding
- E3 (Arg158Cys) ... type III hyperlipoproteinemia
- E4 (Cys112Arg) ... atherosclerosis and Alzheimer's disease
