| Primary Identifier | MGI:97769 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 19122 |
| 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; aspartic-type endopeptidase inhibitor activity; and cupric ion binding activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to membrane; and regulation of signal transduction. Acts upstream of or within several processes, including negative regulation of apoptotic process; regulation of potassium ion transmembrane transport; and response to oxidative stress. Located in several cellular components, including Golgi apparatus; membrane raft; and terminal bouton. Colocalizes with dendrite. Is expressed in several structures, including cardiovascular system; genitourinary system; nervous system; sensory organ; and tooth. Used to study Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; and fatal familial insomnia. Human ortholog(s) of this gene implicated in Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Huntington's disease-like 1; fatal familial insomnia; and kuru. Orthologous to human PRNP (prion protein (Kanno blood group)). PHENOTYPE: Mutations at this locus affect resistance to scrapie infection and spongiform encephalopathy and/or alter scrapie incubation time. Homozygous mutants also show impaired locomotor coordination and reduced mitochondria numbers with unusual morphology. [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
