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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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PSEN1 / Presenilin 1
presenilin 1
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.
| Gene Name: | presenilin 1 |
| Family/Subfamily: | protease , Aspartic A22A |
| Synonyms: | PSEN1, AD3, Alzheimer disease 3, FAD, Protein S182, PS1, S182, PS-1, PSNL1, Presenilin 1, Presenilin-1 |
| Target Sequences: | NM_000021 NP_000012.1 P49768 |
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