NP_036618.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
presenilin-2 isoform 2
NCBI Official Synonym Full Names
presenilin 2
NCBI Protein Information
presenilin-2; AD5; E5-1; PS-2; AD3LP; STM-2; Alzheimer disease 4
UniProt Protein Name
Presenilin-2
UniProt Synonym Protein Names
AD3LP; AD5; E5-1; STM-2Cleaved into the following 2 chains:Presenilin-2 NTF subunit; Presenilin-2 CTF subunit
UniProt Synonym Gene Names
UniProt Entry Name
PSN2_HUMAN
NCBI Summary for PSEN2
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]
UniProt Comments for PSEN2
PSEN2: 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). An integral membrane protein of the Golgi and endoplasmic reticulum. 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. Two alternative splice isoforms have been identified.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; Protease; Cell surface; EC 3.4.23.-
Chromosomal Location of Human Ortholog: 1q42.13
Cellular Component: Golgi apparatus; centrosome; cell surface; integral to plasma membrane; lysosomal membrane; nuclear inner membrane; cytosol; lipid raft; ciliary rootlet; kinetochore; cell soma; membrane; perinuclear region of cytoplasm; mitochondrial inner membrane; apical plasma membrane; dendritic shaft; neuromuscular junction; endoplasmic reticulum membrane; protein complex; endoplasmic reticulum; cell cortex; Z disc; Golgi membrane; growth cone; axon; plasma membrane
Molecular Function: protein binding; endopeptidase activity; aspartic-type endopeptidase activity
Biological Process: positive regulation of catalytic activity; axon guidance; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; protein maturation; regulation of synaptic plasticity; positive regulation of coagulation; cell fate specification; T cell receptor signaling pathway; T cell activation during immune response; protein transport; amyloid precursor protein catabolic process; negative regulation of protein amino acid phosphorylation; hair follicle development; calcium ion transport; beta-amyloid metabolic process; forebrain development; brain morphogenesis; ephrin receptor signaling pathway; negative regulation of protein binding; dorsoventral neural tube patterning; cardiac muscle contraction; embryonic limb morphogenesis; somitogenesis; Notch signaling pathway; membrane protein intracellular domain proteolysis; thymus development; regulation of epidermal growth factor receptor activity; membrane protein ectodomain proteolysis; Notch receptor processing; memory; endoplasmic reticulum calcium ion homeostasis; myeloid leukocyte differentiation; response to hypoxia; hemopoietic progenitor cell differentiation; protein processing; negative regulation of protein complex assembly; alveolus development; negative regulation of apoptosis
Disease: Alzheimer Disease 4; Cardiomyopathy, Dilated, 1v
Research Articles on PSEN2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with PSEN2 elisa kit
Pathways associated with PSEN2 elisa kit
Diseases associated with PSEN2 elisa kit
Organs/Tissues associated with PSEN2 elisa kit
|