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Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; 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 endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP.
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Protein Aliases: AD3LP; AD5; Alzheimer disease 4; E5-1; Presenilin-1; Presenilin-2; Protein S182; PS-1; PS-2; STM-2
Gene Aliases: AD3; Ad3h; AD3L; AD4; Ad4h; ALG-3; Alg3; CMD1V; FAD; PS-1; PS-2; PS1; PS2; PSEN1; PSEN2; PSNL1; PSNL2; S182; STM2
UniProt ID: (Human) Q14762, (Human) P49810, (Rat) P97887, (Rat) O88777, (Mouse) Q9D616
Entrez Gene ID: (Human) 5663, (Human) 5664, (Rat) 29192, (Mouse) 19164, (Rat) 81751, (Mouse) 19165
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