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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.
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Protein Aliases: AD3LP; AD5; Alzheimer disease 4; E5-1; Presenilin-2; PS-2; PSEN 2; STM-2
Gene Aliases: AD3L; AD4; Ad4h; ALG-3; Alg3; CMD1V; PS-2; PS2; PSEN2; PSNL2; STM2
UniProt ID: (Human) P49810, (Rat) O88777, (Mouse) Q9D616
Entrez Gene ID: (Human) 5664, (Rat) 81751, (Mouse) 19165
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