Presenilin-2 (PSEN2) ELISA Kit for Human

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]

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, integral; Cell surface; Protease; Membrane protein, multi-pass; EC 3.4.23.-

Chromosomal Location of Human Ortholog: 1q42.13

Cellular Component: apical plasma membrane; cell cortex; cell soma; centrosome; cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; integral to plasma membrane; kinetochore; membrane; nuclear inner membrane; perinuclear region of cytoplasm; plasma membrane; protein complex; Z disc

Molecular Function: aspartic-type endopeptidase activity; endopeptidase activity; protein binding

Biological Process: alveolus development; amyloid precursor protein catabolic process; axon guidance; beta-amyloid metabolic process; brain morphogenesis; calcium ion transport; cardiac muscle contraction; cell fate specification; dorsoventral neural tube patterning; embryonic limb morphogenesis; endoplasmic reticulum calcium ion homeostasis; ephrin receptor signaling pathway; forebrain development; hair follicle development; hemopoietic progenitor cell differentiation; membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; memory; myeloid leukocyte differentiation; negative regulation of apoptosis; negative regulation of protein amino acid phosphorylation; negative regulation of protein binding; negative regulation of protein complex assembly; nerve growth factor receptor signaling pathway; Notch receptor processing; Notch signaling pathway; positive regulation of apoptosis; positive regulation of catalytic activity; positive regulation of coagulation; protein processing; protein transport; regulation of epidermal growth factor receptor activity; regulation of synaptic plasticity; response to hypoxia; somitogenesis; T cell activation during immune response; T cell receptor signaling pathway; thymus development

Disease: Alzheimer Disease 4; Cardiomyopathy, Dilated, 1v