| Primary Identifier | MGI:109284 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 19165 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including protein catabolic process at postsynapse; regulation of macromolecule metabolic process; and skin morphogenesis. Acts upstream of or within several processes, including nervous system development; regulation of apoptotic signaling pathway; and regulation of protein phosphorylation. Located in several cellular components, including Z disc; ciliary basal body; and neuronal cell body. Part of gamma-secretase complex. Is active in glutamatergic synapse. Is expressed in central nervous system; late tubule; and sensory organ. Used to study Alzheimer's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; Alzheimer's disease 4; breast cancer; and dilated cardiomyopathy 1V. Orthologous to human PSEN2 (presenilin 2). PHENOTYPE: Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage. [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
