| Primary Identifier | MGI:96765 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 16835 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including amyloid-beta binding activity; low-density lipoprotein particle binding activity; and low-density lipoprotein particle receptor activity. Involved in several processes, including endocytosis; regulation of inflammatory response; and regulation of lipid metabolic process. Acts upstream of or within several processes, including cholesterol homeostasis; lipoprotein catabolic process; and low-density lipoprotein particle clearance. Located in several cellular components, including basolateral plasma membrane; endosome; and lysosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; musculoskeletal system; and paravertebral ganglion. Used to study familial hypercholesterolemia and steatotic liver disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; arteriosclerosis; familial hypercholesterolemia; hepatitis C; and migraine without aura. Orthologous to human LDLR (low density lipoprotein receptor). PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [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
