| Primary Identifier | MGI:1202717 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 19164 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aspartic-type endopeptidase activity and cadherin binding activity. Contributes to 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 with a positive effect on L-glutamate import across plasma membrane; gene expression; and sequestering of calcium ion. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; nervous system development; and regulation of protein kinase activity. Located in several cellular components, including ciliary rootlet; dendritic shaft; and growth cone. Part of gamma-secretase complex. Is active in glutamatergic synapse. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and hemolymphoid system. Used to study Alzheimer's disease and Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. [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
