Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2). Presenilins form the catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Evidence suggests cleavage of APP by gamma-secretase and the production of Abeta (42 aa) is likely to play a important or casual role in the development of Alzheimer's disease
Image: Presenilin 1 Antibody detects endogenous levels of the carboxy-terminal fragment of presenilin 1 (~22 kDa). The antibody detects the full length protein (55k Da) to a lesser extent. Western blot image shows extracts from HeLa (1), SK-N-MC (2) and COS (3) cells probed with Presenilin 1 antibody.