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Antibody detects endogenous levels of Presenilin 2 only when phosphorylated at Ser330.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: AD3LP; AD5; Alzheimer disease 4; E5-1; Presenilin-2; PS-2; PSEN 2; STM-2
基因别名: AD3L; AD4; Ad4h; ALG-3; Alg3; CMD1V; PS-2; PS2; PSEN2; PSNL2; STM2
UniProt ID: (Human) P49810, (Rat) O88777, (Mouse) Q61144
Entrez Gene ID: (Human) 5664, (Rat) 81751, (Mouse) 19165