| Protein Name | presenilin 2 |
|---|---|
| Organism | Mus musculus |
| Gene ID | 19165 |
| Gene Symbol | Psen2 |
| UniProt | Q61144 (PSN2_MOUSE), Q3U4P5 (Q3U4P5_MOUSE), A0A0R4J1F2 (A0A0R4J1F2_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
30
Total Number of Articles : 28 |
Description |
presenilin 2 |
| Gene Summary |
This gene encodes a member of the presenilin family. Presenilins are catalytic components of the multi-subunit gamma-secretase complex, which mediates critical cellular processes through cleavage of type I transmembrane proteins including Notch receptors and the amyloid precursor protein. The encoded protein contains eight transmembrane domains and is localized to the endoplasmic reticulum, where it may play a role in calcium homeostasis. Following assembly of the gamma-secretase complex, the encoded protein is cleaved into N- and C-terminal fragments and the activated complex is released from the endoplasmic reticulum. Inactivation of this gene results in impaired synaptic function in a mouse model for Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2011] |
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