GeneID: 46

Description:
APOE is a plasma protein, which associates with lipoproteins that carry dietery and liver-derived cholesterol. It functions primarily to mediate cellular uptake of lipoproteins through receptor-mediated endocytosis and removal of lipoprotein remnants by the liver. It possesses antioxidant activity due to its capacity to bind metal ions. Genetic polymorphism of APOE results in three commonly occuring isoforms (APOE2, APOE3 and APOE4) with different effects on lipid homeostasis. The APOE genotype is a known risk factor for both cardiovascular disease and Alzheimer's disease. It has also been associated with increased risk for left ventricular dysfunction in Greek and Egyptian β-thalassemia major patients.

Synonyms: AD2 , LPG , APO-E , LDLCQ5

Comments:
N/A

Number of entries/variants: 1

1. Mahley RW, Apolipoprotein E: cholesterol transport protein with expanding role in cell biology., Science , 240(4852), 622-30, 1988 PubMed
2. Economou-Petersen E, Aessopos A, Kladi A, Flevari P, Karabatsos F, Fragodimitri C, Nicolaidis P, Vrettou H, Vassilopoulos D, Karagiorga-Lagana M, Kremastinos DT, Petersen MB, Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia., Blood , 92(9), 3455-9, 1998 PubMed
3. El-Tagui MH, Hamdy MM, Shaheen IA, Agha H, Abd-Elfatah HA, Apolipoprotein E gene polymorphism and the risk of left ventricular dysfunction among Egyptian β-thalassemia major., Gene , 524(2), 292-5, 2013 PubMed