Description

The PSEN1 gene encodes presenilin-1, which forms the catalytic component of gamma-secretase. Gamma-secretase is responsible for proteolytic cleavage of amyloid precursor protein (APP; OMIM: 104760) and NOTCH receptor proteins (OMIM 190198). Gamma-secretase is a multiprotein complex consisting of PSEN1 or its homolog PSEN2 (OMIM: 600759), nicastrin (OMIM: 605254), APH1 (APH1A, OMIM: 607629), and PEN2 (PSENEN; OMIM: 607632) (De Strooper, 2003; Chau et al., 2012). 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).

External Information

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