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.
Alias Symbols: AD3, FAD, PS1, S182, PS-1
Protein Interaction Partner: UBC, TRAF6, TGFBR1, ERLIN2, PSMB1, PSMA5, ETFA, TDP2, PSEN2, PSEN1, APH1B, PSENEN, APH1A, NCSTN, ITSN2, PDCD4, KANK2, EPB41L3, CDC37, TUBA1B, AP1M2, UMPS, PRDX2, ST13, SCN1A, RHEB, RAD23A, RAB3A, OXCT1, NOS3, NDUFS8, HMGB1, GCDH, GAPDH, FGF13, ENSA, DTNA,
Protein Size: 467