Presenilin 2 (PSEN2) Antibody

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

Chromosomal Location of Human Ortholog: 1q42.13

Cellular Component: Golgi apparatus; centrosome; endoplasmic reticulum membrane; cell surface; protein complex; integral to plasma membrane; endoplasmic reticulum; lysosomal membrane; nuclear inner membrane; cell cortex; cytosol; Z disc; lipid raft; kinetochore; ciliary rootlet; Golgi membrane; growth cone; membrane; cell soma; axon; perinuclear region of cytoplasm; apical plasma membrane; mitochondrial inner membrane; plasma membrane; dendritic shaft; neuromuscular junction

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; hair follicle development; negative regulation of protein amino acid phosphorylation; beta-amyloid metabolic process; calcium ion transport; forebrain development; ephrin receptor signaling pathway; brain morphogenesis; 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; protein processing; hemopoietic progenitor cell differentiation; negative regulation of protein complex assembly; alveolus development; negative regulation of apoptosis

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