PSEN2
presenilin 2 (Alzheimer disease 4)
AD3L, AD4, CMD1V, PS2, STM2
Human PSEN2 (5664), Mouse Psen2 (19165), Rat Psen2 (81751), Zebrafish psen2 (58026), dog PSEN2 (490382), domestic cat PSEN2 (101081693), chicken PSEN2 (374188), Domestic Rabbit PSEN2 (100343671), cow PSEN2 (282010), sheep PSEN2 (101113776)
- Human(5664) Summary: 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. [provided by RefSeq, Jul 2008]
- Mouse(19165) presenilin 2
- Rat(81751) presenilin 2
- Zebrafish(58026) presenilin 2
- dog(490382) presenilin 2 (Alzheimer disease 4)
- domestic cat(101081693) presenilin 2 (Alzheimer disease 4)
- chicken(374188) presenilin 2 (Alzheimer disease 4)
- Domestic Rabbit(100343671) presenilin 2 (Alzheimer disease 4)
- cow(282010) presenilin 2 (Alzheimer disease 4)
- sheep(101113776) presenilin 2 (Alzheimer disease 4)
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