| Protein Name | presenilin 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5663 |
| Gene Symbol | PSEN1 |
| UniProt | P49768 (PSN1_HUMAN), A0A0S2Z4D2 (A0A0S2Z4D2_HUMAN), A0A024R6A3 (A0A024R6A3_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
378
Total Number of Articles : 463 |
Description |
presenilin 1 |
| Gene Summary |
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. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] |
| synonyms |
|
| Properties | |