| Protein Name | presenilin 2 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5664 |
| Gene Symbol | PSEN2 |
| UniProt | P49810 (PSN2_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
103
Total Number of Articles : 102 |
Description |
presenilin 2 |
| Gene Summary |
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008] |
| synonyms |
|
| Properties | |