| Primary Identifier | MGI:88057 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 11816 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including cholesterol transfer activity; heparan sulfate proteoglycan binding activity; and phosphatidylcholine-sterol O-acyltransferase activator activity. Involved in several processes, including negative regulation of macromolecule metabolic process; plasma lipoprotein particle remodeling; and regulation of defense response. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including cholesterol catabolic process; cholesterol efflux; and lipoprotein metabolic process. Located in extracellular space. Part of low-density lipoprotein particle. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; liver and biliary system; and sensory organ. Used to study Alzheimer's disease; age related macular degeneration 1; and homocystinuria. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease (multiple); artery disease (multiple); biliary tract cancer (multiple); eye disease (multiple); and familial hyperlipidemia (multiple). Orthologous to human APOE (apolipoprotein E). PHENOTYPE: Mutations at this locus cause diet-induced hypercholesterolemia and atherosclerosis. Homozygous null mutants also develop foam-cell rich deposits in proximal aorta, impaired blood-nerve and blood-brain barriers, and many xanthomatous lesions. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
