Human Presenilin 1 ELISA Kit | PSEN1 elisa kit
Presenilin 1 Colorimetric Cell-Based ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in 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 are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
Uniprot Description
PSEN1: 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 (beta-amyloid 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. Regulates epithelial- cadherin function. Five alternative splice isoforms have been identified.
Protein type: Cell surface; EC 3.4.23.-; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Protease
Chromosomal Location of Human Ortholog: 14q24.2
Cellular Component: aggresome; axon; cell cortex; cell junction; cell soma; cell surface; centrosome; ciliary rootlet; dendritic shaft; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; growth cone; integral component of membrane; integral component of plasma membrane; kinetochore; lysosomal membrane; membrane; membrane raft; mitochondrial inner membrane; mitochondrion; neuromuscular junction; nuclear membrane; nuclear outer membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; presynapse; protein complex; rough endoplasmic reticulum; smooth endoplasmic reticulum; Z disc
Molecular Function: aspartic endopeptidase activity, intramembrane cleaving; aspartic-type endopeptidase activity; beta-catenin binding; cadherin binding; calcium channel activity; endopeptidase activity; PDZ domain binding; protein binding
Biological Process: activation of MAPKK activity; amyloid precursor protein catabolic process; amyloid precursor protein metabolic process; amyloid-beta formation; astrocyte activation; astrocyte activation during immune response; autophagosome assembly; blood vessel development; brain morphogenesis; Cajal-Retzius cell differentiation; cell fate specification; cellular response to amyloid-beta; cellular response to DNA damage stimulus; cerebral cortex cell migration; choline transport; dorsal/ventral neural tube patterning; embryonic limb morphogenesis; endoplasmic reticulum calcium ion homeostasis; ephrin receptor signaling pathway; epithelial cell proliferation; heart looping; hemopoietic progenitor cell differentiation; L-glutamate transport; learning and/or memory; membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; memory; mitochondrial transport; myeloid dendritic cell differentiation; negative regulation of apoptosis; negative regulation of apoptotic signaling pathway; negative regulation of axonogenesis; negative regulation of core promoter binding; negative regulation of epidermal growth factor receptor activity; negative regulation of low-density lipoprotein receptor activity; negative regulation of neuron apoptosis; negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of transcription from RNA polymerase II promoter; negative regulation of ubiquitin-protein ligase activity; neural retina development; neuron apoptosis; neuron development; neuron migration; neutrophil degranulation; Notch receptor processing; Notch signaling pathway; positive regulation of amyloid fibril formation; positive regulation of apoptosis; positive regulation of catalytic activity; positive regulation of coagulation; positive regulation of phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein binding; positive regulation of protein import into nucleus, translocation; positive regulation of receptor recycling; positive regulation of transcription, DNA-templated; post-embryonic development; protein glycosylation; protein processing; protein transport; regulation of phosphorylation; regulation of resting membrane potential; regulation of synaptic plasticity; regulation of synaptic transmission, glutamatergic; response to oxidative stress; skeletal morphogenesis; skin morphogenesis; smooth endoplasmic reticulum calcium ion homeostasis; somitogenesis; synapse organization; synaptic vesicle targeting; T cell activation involved in immune response; T cell receptor signaling pathway; thymus development; Wnt receptor signaling pathway through beta-catenin
Disease: Acne Inversa, Familial, 3; Alzheimer Disease 3; Cardiomyopathy, Dilated, 1u; Frontotemporal Dementia; Pick Disease Of Brain
Research Articles on PSEN1
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Product Notes
The Human PSEN1 psen1 (Catalog #AAA9500641) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9500641 ELISA Kit recognizes Human PSEN1. It is sometimes possible for the material contained within the vial of "Presenilin 1, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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