Entrez gene ID | | 348 |
Official gene symbol | | APOE |
Full name | | apolipoprotein E |
Aliases | | ,AD2,LDLCQ5,LPG,MGC1571, |
Gene summary | | Chylomicron remnants and very low density lipoprotein (VLDL) remnants 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 remnants. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.2 |
Gene position | | 45409039 - 45412650 Map Viewer |
Gene orientation | | plus |
Gene size | | 3612 bp |
Gene sequence |
| |
OMIM ID | | 107741 |
|