Presenilin 1 (PSEN1)
FAD; AD3; PS1; PSNL1; S182; Alzheimer Disease 3; Protein S182; Presenilin-1 CTF12
Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma secretase activity or themselves are protease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined.
Organism species: Homo sapiens (Human)
Organism species: Mus musculus (Mouse)
- Recombinant proteinRPC200Mu01Recombinant Presenilin 1 (PSEN1)In Stock
- Recombinant proteinRPC200Mu02Recombinant Presenilin 1 (PSEN1)In Stock
- Polyclonal antibodyPAC200Mu01Polyclonal Antibody to Presenilin 1 (PSEN1)In Stock
- Polyclonal antibodyPAC200Mu02Polyclonal Antibody to Presenilin 1 (PSEN1)In Stock
- Sandwich ELISASEC200MuELISA Kit for Presenilin 1 (PSEN1)In Stock