APOE
LOCUS ID348
GENE_SYMBOLAPOE
GENE NAMEapolipoprotein E
SYNONYMNSAD2, LPG, LDLCQ5
CHROMOSOME19
HOMOLOGENE ID30951
GENE SUMMARY
Chylomicron remnts and very low density lipoprotein (VLDL) remnts are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnts. [provided by RefSeq, Jul 2008]