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.
Alias Symbols: AD3, FAD, PS1, S182, PS-1
Protein Interaction Partner: APH1A,APP,APP,APP,APP,CTNNB1,CTNND2,NCSTN,STX1A,STX5,CASP1,CASP3,CASP4,CASP7,APBA1,APH1A,APH1B,APP,BACE1,BCL2,BCL2L1,CASP1,CASP3,CASP4,CASP6,CASP7,CASP8,CDH1,CDK5,CIB1,CTNNA1,CTNNB1,CTNND1,CTNND2,DLL1,DOCK3,EFNB2,ERN1,FBXW7,FLNA,FLNB,GDI1,GFAP,GSK3B,HERPU
Protein Size: 467