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  4. Recombinant Human Presenilin-2 (PSEN2), partial

Recombinant Human Presenilin-2 (PSEN2), partial

  • 货号：
    CSB-YP018847HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP018847HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP018847HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP018847HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP018847HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    AD3L; AD3LP; AD4; AD5; Alzheimer disease 4; CMD1V; E5-1; OTTHUMP00000035671; OTTHUMP00000035672; OTTHUMP00000228286; OTTHUMP00000228288; Presenilin 2 (Alzheimer disease 4); Presenilin 2; Presenilin-2 CTF subunit; PS-2; PS2; Psen2; PSN2_HUMAN; PSNL2; STM-2; STM2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. PMID: 26522186
    10. Its mutation is pathogenic to early onset familial AD associated with atypical symptom presentation. PMID: 26422362
    11. 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
    12. Its mutations of PSEN2 account for pathogenicity of early-onset familial Alzheimer's disease. PMID: 26166204
    13. Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence. PMID: 25814654
    14. 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
    15. Mutations in PSEN2 are relatively rare cause of the autosomal-dominant cases of Early onset familial Alzheimer Disease. PMID: 25998117
    16. 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
    17. PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD PMID: 25323700
    18. 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
    19. 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
    20. 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
    21. Mutation in PSEN2 causes of early-onset familial Alzheimer's disease. PMID: 24838186
    22. Levels of presenilin 2 are higher in the cerebral cortex of presenilin 1 knockout mice, suggesting a compensatory upregulation. PMID: 25429133
    23. the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation revealed significant structural changes in the region PMID: 24885952
    24. Alzheimer's disease pathology induced by overexpression of human mutant presenilin 2 (PS2) protein induced changes in glucose metabolism, were investigated. PMID: 23546527
    25. 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
    26. 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
    27. we found that the protein expression of presenilin 2 (PS2) was significantly increased in glioma tissues PMID: 22753229
    28. 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
    29. results indicate that PS2 modulates the degradation of RBP-Jk through phosphorylation by p38 MAPK. PMID: 22302987
    30. analysis supports the hypothesis that the PSEN2 rs8383 polymorphism is associated with an enlarged risk of sporadic Alzheimer's disease PMID: 22580083
    31. 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
    32. PSEN2 Arg62His mutation may lead to a phenotypic heterogeneity presenting either as Alzheimer's disease or Lewy body dementia. PMID: 21409510
    33. [review] The role of presenilin 2 in general physiology and Alzheimer's disease pathology due to its mutation are discussed. PMID: 21545304
    34. One distinct haploblock in PSEN2 was detected and the frequent haplotypes were analyzed using 4 tagging single nucleotide polymorphisms PMID: 20850903
    35. 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
    36. Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake PMID: 19382908
    37. The PS2 mutation causes early cerebral amyloid accumulation and memory dysfunction. PMID: 21234330
    38. 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
    39. Presenilin 2 modulates endoplasmic reticulum-mitochondria interactions and Ca2+ cross-talk. PMID: 21285369
    40. 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
    41. 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
    42. 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
    43. a novel Arg62His Presenilin2 mutation in patient with frontotemporal dementia PMID: 19768372
    44. 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
    45. interaction with CALP/KChIP4 PMID: 11847232
    46. PS2 mRNA is present only in lymphocytes, in contrast to PS1 mrna, which is found in both myeloid and lymphoid cells. PMID: 11987239
    47. mutant presenilin 2 induces apoptosis accompanied by increased caspase-3-like activity and decreased bcl-2 expression in neuronal cells PMID: 12173418
    48. PS2/gamma-secretase contains PEN-2 and requires it for presenilin expression PMID: 12198112
    49. 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
    50. 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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  • 相关疾病：
    Alzheimer disease 4 (AD4); Cardiomyopathy, dilated 1V (CMD1V)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Peptidase A22A family
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 9509

    OMIM: 600759

    KEGG: hsa:5664

    STRING: 9606.ENSP00000355747

    UniGene: Hs.25363