APOE

apolipoprotein E

13 disorders 6 untyped 2 risk factor 2 susceptibility 2 causative 1 modifier 19q13.32 gene with protein product

HGNC:613 Monarch NCBI Gene 348 ENSG00000130203 UniProt P02649 OMIM 107741

Previous symbols: AD2.

Normal function · from ai-gene-review (P02649, commit 79fe13b38970) · AI-generated, not KB evidence

Apolipoprotein E is a secreted exchangeable apolipoprotein that associates with plasma, interstitial, and central-nervous-system lipoprotein particles. Through amphipathic lipid-binding domains and receptor-binding activity, APOE mediates cholesterol and phospholipid efflux, high-density lipoprotein particle formation/remodeling, and receptor- or proteoglycan-dependent clearance of chylomicron remnants, VLDL, IDL, LDL, and HDL particles. APOE is produced prominently by liver and by astrocytes and other glial cells in brain, where it supports lipid redistribution among cells. APOE also binds amyloid-beta, tau, immune receptors, extracellular matrix proteoglycans, and other partners, but these disease- or context-linked activities are secondary to its core lipid-transport and lipoprotein-clearance roles.

APOE is an exchangeable apolipoprotein that binds phospholipids and cholesterol and promotes cholesterol/phospholipid efflux and HDL-like particle formation, including ABCA1-dependent lipidation in peripheral cells and CNS-relevant astrocyte contexts.

molecular function: cholesterol transfer activity · directly involved in: lipid transport; cholesterol efflux; phospholipid efflux; high-density lipoprotein particle assembly; reverse cholesterol transport; cholesterol metabolic process · locations: extracellular region

APOE acts as a receptor/proteoglycan ligand on triglyceride-rich and cholesterol-rich lipoprotein particles, enabling uptake and clearance of chylomicron remnants, VLDL remnants, IDL/LDL-related particles, and HDL particles by hepatocytes and other cells.

molecular function: low-density lipoprotein particle receptor binding · directly involved in: receptor-mediated endocytosis; chylomicron remnant clearance; very-low-density lipoprotein particle clearance; triglyceride-rich lipoprotein particle clearance; acylglycerol homeostasis · locations: extracellular region

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Cerebral Amyloid Angiopathy	risk factor	scoped to subtype: Sporadic
Dementia with Lewy Bodies	susceptibility
Early-Onset Autosomal Dominant Alzheimer Disease	modifier
Lipoprotein Glomerulopathy	causative germline	mechanism: APOE Variants Near the LDL-Receptor-Binding Region
Progressive Supranuclear Palsy	risk factor germline
Sea-Blue Histiocyte Syndrome	causative germline	mechanism: Defective Macrophage Lipid and Lipoprotein Handling
Subacute Delirium	susceptibility
Alzheimer Disease	untyped Risk Factor	mechanism: Microglial Lipid Droplet Accumulation; Oligodendrocyte and Myelin Dysfunction scoped to subtype: Late-Onset Alzheimer's Disease
Coronary Artery Disease	untyped Risk Factor
Familial Hypercholesterolemia	untyped Rare Causative Variants	mechanism: APOE-Related Lipoprotein Clearance Defect
Hospital-Acquired Acute Kidney Injury	untyped Associated
Hyperlipidemia	untyped Lipoprotein Clearance Modifier
Tuberculosis	untyped Lipid metabolism in TB-infected macrophages

Mechanism modules · computed from kb/

cns_myelin_failure via Alzheimer Disease

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.