| Primary Identifier | MGI:2140260 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 100102 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables apolipoprotein binding activity; lipoprotein particle binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including cellular response to insulin stimulus; liver development; and regulation of neuron apoptotic process. Acts upstream of or within several processes, including cholesterol metabolic process; low-density lipoprotein receptor particle metabolic process; and regulation of low-density lipoprotein particle receptor catabolic process. Located in COPII-coated ER to Golgi transport vesicle; endoplasmic reticulum; and extracellular space. Is expressed in several structures, including alimentary system; cerebellum; genitourinary system; liver; and telencephalon. Human ortholog(s) of this gene implicated in familial hypercholesterolemia and hypobetalipoproteinemia. Orthologous to human PCSK9 (proprotein convertase subtilisin/kexin type 9). PHENOTYPE: Homozygous null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels. [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
