| Primary Identifier | MGI:88059 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 11820 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; low-density lipoprotein particle receptor binding activity; and signaling receptor activator activity. Involved in negative regulation of blood circulation; positive regulation of endothelin production; and positive regulation of tumor necrosis factor production. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; nervous system development; and regulation of gene expression. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and neuromuscular junction. Is active in presynaptic active zone. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; neurogenic placode; and sensory organ. Used to study Alzheimer's disease. Human ortholog(s) of this gene implicated in APP-related cerebral amyloid angiopathy; Alzheimer's disease (multiple); cognitive disorder; traumatic brain injury; and visual epilepsy. Orthologous to human APP (amyloid beta precursor protein). PHENOTYPE: Mice homozygous for disruptions in this gene exhibit reduced body weight, brain weight, size of forebrain commissures, locomotor activity, forelimb grip strength, and spatial learning scores. Many mice also exhibit agenesis of the corpus callosum, and extensive reactive gliosis. [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
