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.,AD3,FAD,PS-1,PS1,S182,Presenilin 1,PSEN1,Cancer,Signal Transduction,ErbB-HER Signaling Pathway,Cell Biology & Developmental Biology,Autophagy,Notch Signaling Pathway,ESC Pluripotency and Differentiation,Endocrine & Metabolism,Neuroscience,Neurodegenerative Diseases,Amyloid Plaque and Neurofibrillary Tangle Formation in Alzheimer's Disease,Neurodegenerative Diseases Markers,PSEN1