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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.
Gene Name: | presenilin 2 (Alzheimer disease 4) |
Family/Subfamily: | Protease , Aspartic A22A |
Synonyms: | PSEN2, AD3LP, AD4, AD5, AD3L, CMD1V, PS-2, PSNL2, PS2, STM2, Presenilin 2, STM-2, E5-1, Presenilin-2 |
Target Sequences: | NM_000447 NP_000438.2 P49810 |
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