PSEN1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolPSEN1
Namepresenilin 1
Typeprotein-coding
Sourcemygene

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

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