免疫原
Synthesized peptide derived from human Presenilin 2 AA range: 270-350
特异性
This antibody detects endogenous levels of Human,Mouse,Rat Presenilin 2
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
WB 1:500-2000;IHC-p 1:50-300
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（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. [provided by RefSeq, Jul 2008],
功能
disease:Defects in PSEN2 are the cause of Alzheimer disease type 4 (AD4) [MIM:606889]. AD is an autosomal dominant Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.,disease:Three causative genes have been identified that when mutated lead to presenile Alzheimer disease: APP (amyloid precursor protein gene), PSEN1 and PSEN
基因名称（Gene Name）
PSEN2 AD4 PS2 PSNL2 STM2
其他名称
Presenilin-2 (PS-2;EC 3.4.23.-;AD3LP;AD5;E5-1;STM-2) [Cleaved into: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit]
Fields
>>Notch signaling pathway;>>Neurotrophin signaling pathway;>>Alzheimer disease;>>Pathways of neurodegeneration - multiple diseases
细胞定位
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Golgi apparatus membrane ; Multi-pass membrane protein .
组织表达
Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.
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