Phospho-PSEN2 (S330) Antibody
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中文名稱：磷酸化-PSEN2 (S330)兔多克隆抗體
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貨號：CSB-PA040017
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規格：￥1090
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其他：
產品詳情
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Uniprot No.：
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基因名：
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別名：AD3L antibody; AD3LP antibody; AD4 antibody; AD5 antibody; Alzheimer disease 4 antibody; CMD1V antibody; E5-1 antibody; OTTHUMP00000035671 antibody; OTTHUMP00000035672 antibody; OTTHUMP00000228286 antibody; OTTHUMP00000228288 antibody; Presenilin 2 (Alzheimer disease 4) antibody; Presenilin 2 antibody; Presenilin-2 CTF subunit antibody; PS-2 antibody; PS2 antibody; Psen2 antibody; PSN2_HUMAN antibody; PSNL2 antibody; STM-2 antibody; STM2 antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Synthesized peptide derived from Human Presenilin 2 around the phosphorylation site of S330.
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免疫原種屬：Homo sapiens (Human)
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標記方式：Non-conjugated
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抗體亞型：IgG
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
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產品提供形式：Liquid
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應用范圍：WB, IHC, ELISA
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:2000 IHC 1:100-1:300 ELISA 1:5000 -
Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis. Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria.
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基因功能參考文獻：
- Determined whether a pathogenic mutation in the PSEN2 gene in a Korean patient was associated with early onset Alzheimer's disease. Findings revealed that the p.His169Asn might be an important residue in PSEN2, which may alter the functions of PSEN2, suggesting its potential involvement with AD phenotype. PMID: 30104866
- The present data suggest that PS2 mutations suppress lung tumor development by inhibiting the iPLA2 activity of PRDX6 via a gamma-secretase cleavage mechanism and may explain the inverse relationship between lung cancer and Alzheimer's disease incidence. PMID: 29109765
- The results show that in cognitively normal young adults carrying Presenelin 2 mutations had different spontaneous brain activity patterns without cerebral structural differences. PMID: 28987665
- Presenilin 2 (PS2), mutations in which underlie familial Alzheimer's disease (FAD), promotes endoplasmic reticulum-mitochondria coupling only in the presence of mitofusin 2 (Mfn2). PMID: 27239030
- This review reveled that Mutations in APP and PS-1 and PS-2 genes that are associated with early-onset, autosomal, dominantly inherited AD. PMID: 27135718
- Most of the early-onset Alzheimer's disease -associated mutations have been detected in PSEN1, and several novel PSEN1 mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, no PSEN2 mutations were found in Asian patients; however, emerging studies from Korea and the People's Republic of China discovered probably pathogenic PSEN2 mutations. [review] PMID: 27799753
- Familial Alzheimer's disease Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more frequently with disorientation. [review] PMID: 26337232
- Study identified a unique motif in PSEN2 that directs gamma-secretase to late endosomes/lysosomes via a phosphorylation-dependent interaction with the AP-1 adaptor complex. PSEN2 selectively cleaves late endosomal/lysosomal localized substrates and generates the prominent pool of intracellular Abeta that contains longer Abeta; familial Alzheimer's disease-associated mutations in PSEN2 increased the levels of longer Ab... PMID: 27293189
- German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. PMID: 26522186
- Its mutation is pathogenic to early onset familial AD associated with atypical symptom presentation. PMID: 26422362
- This study identified variants in PSEN2 across a range of phenotypes (Alzheimer's Disease , Alzheimer's Disease and cerebrovascular disease,frontotemporal dementia and progressive supranuclear palsy. PMID: 26159191
- Its mutations of PSEN2 account for pathogenicity of early-onset familial Alzheimer's disease. PMID: 26166204
- Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence. PMID: 25814654
- PSEN2 mutations appeared not only in Alzheimer's Disease patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson's disease with dementia PMID: 26203236
- Mutations in PSEN2 are relatively rare cause of the autosomal-dominant cases of Early onset familial Alzheimer Disease. PMID: 25998117
- The results of this study showed that PSEN2 was significantly downregulated in the auditory cortex of Alzheimer's disease patients when compared to controls. PMID: 24927704
- PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD PMID: 25323700
- A review, representing the first attempt to systematically organize the available evidence concerning the phenotypic characteristics of familial Alzheimer's disease due to PSEN2 mutations PMID: 24594196
- study describes a previously unrecognized sequence change (c.376G>A) in PSEN2 in an early onset Alzheimer's disease patient and her likewise affected mother PMID: 24844686
- The loss of PS2 could have a critical role in lung tumor development through the upregulation of iPLA2 activity by reducing gamma-secretase. PMID: 24858037
- Mutation in PSEN2 causes of early-onset familial Alzheimer's disease. PMID: 24838186
- Levels of presenilin 2 are higher in the cerebral cortex of presenilin 1 knockout mice, suggesting a compensatory upregulation. PMID: 25429133
- the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation revealed significant structural changes in the region PMID: 24885952
- Alzheimer's disease pathology induced by overexpression of human mutant presenilin 2 (PS2) protein induced changes in glucose metabolism, were investigated. PMID: 23546527
- Interactome analyses of mature gamma-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2. PMID: 23589300
- For the Abeta40 region on chromosome 1, association of several SNPs was observed at the presenilin 2 gene (PSEN2) in 125 subjects with severe hypertension. PMID: 22872014
- we found that the protein expression of presenilin 2 (PS2) was significantly increased in glioma tissues PMID: 22753229
- The PSEN2 and PSEN1 genes have a very similar genetic structure and encode two proteins expressed in a multiplicity of tissues including the brain. PMID: 20594621
- results indicate that PS2 modulates the degradation of RBP-Jk through phosphorylation by p38 MAPK. PMID: 22302987
- analysis supports the hypothesis that the PSEN2 rs8383 polymorphism is associated with an enlarged risk of sporadic Alzheimer's disease PMID: 22580083
- The results of this study demonstrated that upregulation of PSEN2 and the upregulation of BACE1 is an ancient, conserved, and thus selectively advantageous response to hypoxia/oxidative stress. PMID: 22045484
- PSEN2 Arg62His mutation may lead to a phenotypic heterogeneity presenting either as Alzheimer's disease or Lewy body dementia. PMID: 21409510
- [review] The role of presenilin 2 in general physiology and Alzheimer's disease pathology due to its mutation are discussed. PMID: 21545304
- One distinct haploblock in PSEN2 was detected and the frequent haplotypes were analyzed using 4 tagging single nucleotide polymorphisms PMID: 20850903
- The results of this study suggested that oxidative stress-mediated ERK activation contributes to increases in beta-secretase and, thus, an increase of Abeta generation in neuronal cells expressing mutant PS2. PMID: 22249458
- Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake PMID: 19382908
- The PS2 mutation causes early cerebral amyloid accumulation and memory dysfunction. PMID: 21234330
- familial Alzheimer disease presenilin 2 protein interactions with InsP(3) receptor causes exaggerated calcium signaling that may contribute to the disease pathology by enhanced generation or reactive oxygen species PMID: 20701429
- Presenilin 2 modulates endoplasmic reticulum-mitochondria interactions and Ca2+ cross-talk. PMID: 21285369
- A genome scan within nine families for loci influencing age-at-onset, while simultaneously controlling for variation in the primary PSEN2 mutation (N141I) and APOE, was performed. PMID: 20333730
- this study demonistreated that an Italian pedigree linked to a novel mutation (S175C) at the third transmembrane domain of PSEN2 in atypical alzeheimer disease. PMID: 20164579
- A family with the N141I mutation in PSEN2 that presently lives in Germany has been connected to the haplotype that carries the same mutation in pedigrees descended from the Volga Germans. PMID: 20457965
- a novel Arg62His Presenilin2 mutation in patient with frontotemporal dementia PMID: 19768372
- Mutations in presenilin 2 are rarely associated with Alzheimer's disease. The best studied Asn141Iso mutation produces an Alzheimer's disease phenotype with a wide range of onset ages. PMID: 20375137
- interaction with CALP/KChIP4 PMID: 11847232
- PS2 mRNA is present only in lymphocytes, in contrast to PS1 mrna, which is found in both myeloid and lymphoid cells. PMID: 11987239
- mutant presenilin 2 induces apoptosis accompanied by increased caspase-3-like activity and decreased bcl-2 expression in neuronal cells PMID: 12173418
- PS2/gamma-secretase contains PEN-2 and requires it for presenilin expression PMID: 12198112
- There is no evidence to suggest that variations in the PSEN2 gene pose as major risk factors for sporadic early-onset Alzheimer disease PMID: 12210343
- in oxygen stress conditions relatively minor variations in PSEN2 promoter DNA sequence structure can enhance PSEN2 gene expression and that may play a role in the induction and/or proliferation of an inflammatory response in AD brain. PMID: 12232783
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相關疾病：Alzheimer disease 4 (AD4); Cardiomyopathy, dilated 1V (CMD1V)
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亞細胞定位：Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.
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蛋白家族：Peptidase A22A family
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組織特異性：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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數據庫鏈接：
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