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Merck
CN

PSEN2

presenilin 2 (Alzheimer disease 4)

别名:
AD3L, AD4, CMD1V, PS2, STM2
物种:
UniProtKB ID:
基因ID:
  • 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
  • domestic cat(101081693) presenilin 2 (Alzheimer disease 4)
  • chicken(374188) presenilin 2 (Alzheimer disease 4)
  • sheep(101113776) presenilin 2 (Alzheimer disease 4)
  • Zebrafish(58026) presenilin 2
  • dog(490382) presenilin 2 (Alzheimer disease 4)
  • Domestic Rabbit(100343671) presenilin 2 (Alzheimer disease 4)
  • cow(282010) presenilin 2 (Alzheimer disease 4)
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