Aliases for APOE Gene
Previous HGNC Symbols for APOE Gene
Previous GeneCards Identifiers for APOE Gene
The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary for APOE Gene
APOE (Apolipoprotein E) is a Protein Coding gene. Diseases associated with APOE include Lipoprotein Glomerulopathy and Sea-Blue Histiocyte Disease. Among its related pathways are Alzheimers Disease Pathway and Glucose / Energy Metabolism. GO annotations related to this gene include protein homodimerization activity and receptor binding.
UniProtKB/Swiss-Prot for APOE Gene
Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.