APOE

Gene Information
 
Gene Symbol
APOE
 
Aliases
AD2, APO-E, LDLCQ5, LPG
 
Entrez Gene ID
348
 
Gene Name
Apolipoprotein E
 
Chromosomal Location
19q13.31
 
HGNC ID
613
 
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, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000302 Biological process Response to reactive oxygen species NAS 11743999
GO:0001937 Biological process Negative regulation of endothelial cell proliferation IDA 9685360
GO:0006641 Biological process Triglyceride metabolic process IMP 3771793
GO:0006898 Biological process Receptor-mediated endocytosis IDA 1917954
GO:0007010 Biological process Cytoskeleton organization TAS 9622609
Protein Information
 
Protein Name
Apolipoprotein E
 
Function
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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR000074, IPR013326
 
Pfam
Pfam Accession Pfam ID
PF01442 Apolipoprotein Apolipoprotein A1/A4/E domain
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Atherosclerosis 18418429
Hyperandrogenism 22197603
Hypertriglyceridaemia 22197603
Inflammation 22197603
Insulin resistance 18418429, 22197603
   
References
 
Primary:

Apolipoprotein E-containing HDL-associated platelet-activating factor acetylhydrolase activities and malondialdehyde concentrations in patients with PCOS.

Fan Ping, Liu Hongwei, Wang Ying, Zhang Feng, Bai Huai
West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Reprod Biomed Online. 2012 Feb;24(2):197-205. doi: 10.1016/j.rbmo.2011.10.010.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Inflammation and atherosclerosis,hyperandrogenism, insulin resistance,hypertriglyceridaemia,type 2 diabetes mellitus and future cardiovascular diseases 
 
Rotterdam criteria 
Related 
 
Decreased total and apoE-containing HDL-PAF-AH activities and increased serum MDA concentration may contribute to the pathogenesis of PCOS and potentially link to related complications responsible for oxidative stress and inflammation such as an increased risk for type 2 diabetes mellitus and/or future cardiovascular diseases in PCOS patients. 
Apo-A1, apoB,SHBG 
Insulin resistance,atherosclerosis 
 
 
Related 
 
Elevated OxLDL and the relation of apoE and nonesterified fatty acids with insulin resistance suggest that women with PCOS are at increased risk for premature atherosclerosis. 
Apo E2 allele 
Cardiovascular risk 
Apo E3 allele 
Rotterdam criteria 
Related 
Turkey-129 PCOS and 91 controls 
The Apo E3 allele was found at a significantly higher frequency in the PCOS patient group compared with the control group.  

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23746632
Effects of apolipoprotein E genotypes on metabolic profile and oxidative stress in southwest Chinese women with polycystic ovary syndrome. 
Clinical study 

 

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