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apo e2

Allelic form of apo E Structure: - Cys :site C112 - Met :site M125 - Cys :site C158 Pathology: - most patients with yperlipoproteinemia type-3 (familial dysbetalipoproteinemia) are homozygous for apo E2 - the apo E2 isoform results in defective binding of chylomicron & VLDL remnants to hepatic lipoprotein receptors, & decreased clearance from plasma - however, additional genetic or environmental factors are necessary for expression of the disease since only 1-4% of persons homozygous for apo E2 develop familial dysbetalipoproteinemia - inheritance of the apo E2 allele may confer protection against the development of Alzheimer's disease [3] Laboratory: - apolipoprotein E2 in blood

Properties

GENERAL: apolipoprotein E RELATED: apolipoprotein E genotype apolipoprotein-E gene hyperlipoproteinemia type 3 SIZE: entity length = 317 aa MW = 36 kD COMPARTMENT: extracellular compartment FORM: apo e2 MOTIF: signal sequence {1-18} consensus repeat {80-101} consensus repeat {102-123} consensus repeat {124-145} consensus repeat {146-167} Ser phosphorylation site {S147} LDL receptor binding {158-168} MOTIF: binding site SITE: 162-165 FOR-BINDING-OF: heparin consensus repeat {168-189} consensus repeat {190-211} consensus repeat {212-233} Thr glycosylation site {T212} binding site SITE: 229-236 FOR-BINDING-OF: heparin consensus repeat {234-255} Thr glycosylation site {T307} Ser glycosylation site {S308} SECRETED-BY: hepatocyte astrocyte WITHIN: central nervous system COMPONENT-OF: chylomicron MISC-INFO: CONCENTRATION 2-6 MG/DL

References

  1. Mendelian Inheritance in Man (1990) MIM#107741
  2. Strittmatter WJ et al Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1977-81 PMID: 8446617
  3. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: 11274343

Databases & Figures

OMIM correlations MORBIDMAP 107741 UniProt P02649 Pfam PF01442 Entrez Gene 348 Kegg hsa:348 ApoE allele frequencies