Presenilin 1, Loop (PSEN1) Antibody – Rabbit Polyclonal

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]

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

Chromosomal Location of Human Ortholog: 14q24.3

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

Molecular Function: protein binding; cadherin binding; calcium channel activity; endopeptidase activity; beta-catenin binding; aspartic-type endopeptidase activity; PDZ domain binding

Biological Process: positive regulation of catalytic activity; extracellular matrix organization and biogenesis; activation of MAPKK activity; positive regulation of apoptosis; beta-amyloid formation; regulation of synaptic plasticity; positive regulation of coagulation; Wnt receptor signaling pathway through beta-catenin; choline transport; T cell receptor signaling pathway; mitochondrial transport; T cell activation during immune response; post-embryonic development; positive regulation of MAP kinase activity; extracellular matrix disassembly; cell-cell adhesion; epithelial cell proliferation; negative regulation of axonogenesis; negative regulation of neuron apoptosis; embryonic limb morphogenesis; autophagic vacuole formation; somitogenesis; regulation of phosphorylation; skin morphogenesis; Notch receptor processing; negative regulation of ubiquitin-protein ligase activity; neuron development; Cajal-Retzius cell differentiation; hemopoietic progenitor cell differentiation; response to oxidative stress; negative regulation of apoptosis; regulation of synaptic transmission, glutamatergic; protein maturation; neuron migration; protein amino acid glycosylation; cell fate specification; myeloid dendritic cell differentiation; negative regulation of transcription from RNA polymerase II promoter; protein transport; amyloid precursor protein catabolic process; beta-amyloid metabolic process; regulation of resting membrane potential; brain morphogenesis; heart looping; positive regulation of receptor recycling; dorsoventral neural tube patterning; blood vessel development; Notch signaling pathway; L-glutamate transport; thymus development; membrane protein ectodomain proteolysis; memory; negative regulation of epidermal growth factor receptor activity; smooth endoplasmic reticulum calcium ion homeostasis; neuron apoptosis; endoplasmic reticulum calcium ion homeostasis; cerebral cortex cell migration; skeletal morphogenesis; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of protein binding; protein processing; synaptic vesicle targeting; response to DNA damage stimulus

Disease: Alzheimer Disease 3; Pick Disease Of Brain; Frontotemporal Dementia; Acne Inversa, Familial, 3; Cardiomyopathy, Dilated, 1u