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Apolipoprotein E (Apo-E) is a protein involved in the metabolism of fats in the body of mammals. A subtype is implicated in Alzheimer's disease and cardiovascular diseases . [ 5 ] It is encoded in humans by the gene APOE .
APOE associates with high-density lipoproteins (HDL). [12] The gene for APOE is located on chromosome 19 and exhibits polymorphisms in the population defined by three alleles of APOE: 𝜀2, 𝜀3, and 𝜀4. [16] [19] These alleles differ by only two single nucleotide polymorphisms in exon 4, rs429358 and rs7412 (amino-acid position 112 and 158).
Mutations in the other two SNPs, rs7561528 and rs744373, are reported to be generally associated with increased AD risk, although the results in East Asians are varied. [48] A few studies in East Asians have failed to reliably replicate a significant association between these polymorphisms and AD risk due to small sample size. [ 49 ]
Apolipoprotein E (apoE) plays an important role in the transport and uptake of cholesterol by way of its high affinity interaction with lipoprotein receptors, including the low-density lipoprotein (LDL) receptor. ApoE is the major lipoprotein in the central nervous system.
Low density lipoprotein receptor-related protein 1 (LRP1), also known as alpha-2-macroglobulin receptor (A2MR), apolipoprotein E receptor (APOER) or cluster of differentiation 91 (CD91), is a protein forming a receptor found in the plasma membrane of cells involved in receptor-mediated endocytosis.
APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus 19q13.2; CIC: Capicua transcriptional repressor. Gene map locus 19q13.2; FCGBP: Fc fragment of IgG binding protein; SARS2: seryl-tRNA synthetase 2, mitochondrial. Gene map locus 19q13.2; ATP1A3: ATPase. Gene map locus 19q13.31; DMWD: DM1 locus, WD repeat containing ...
The receptor also recognizes apolipoprotein E (ApoE) which is found in chylomicron remnants and IDL. In humans, the LDL receptor protein is encoded by the LDLR gene on chromosome 19 . [ 6 ] [ 7 ] [ 8 ] It belongs to the low density lipoprotein receptor gene family . [ 9 ]
Apolipoprotein A-I Milano (also ETC-216, now MDCO-216) is a naturally occurring mutated variant of the apolipoprotein A1 protein found in human HDL, the lipoprotein particle that carries cholesterol from tissues to the liver and is associated with protection against cardiovascular disease.