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psen2

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Official Full Name
presenilin 2
Background
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or 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 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified.
Synonyms
PSEN2; AD4; PS2; AD3L; AD3LP; STM2; CMD1V; presenilin 2 (Alzheimer disease 4); presenilin 2; presenilin-2; AD5; E5-1; PS-2; STM-2; OTTHUMP00000035671; OTTHUMP00000035672; OTTHUMP00000228286; OTTHUMP00000228288; EC 3.4.23.-; EC 3.4.23; PSNL2; pre2; zf-PS2