Synthesized peptide derived from human Presenilin 1 around the phosphorylation site of S357. Location: 300-380aa.
Alternative Synonym:
AD3, FAD, PS1, PS-1, S182, ACNINV3
Alzheimers 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.
