Presenilin 2 (PS-2) 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: Cell surface; EC 3.4.23.-; Membrane protein, integral; Membrane protein, multi-pass; Protease

Chromosomal Location of Human Ortholog: 1q42.13

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

Molecular Function: aspartic endopeptidase activity, intramembrane cleaving; aspartic-type endopeptidase activity; endopeptidase activity; protein binding

Biological Process: amyloid precursor protein catabolic process; beta-amyloid metabolic process; calcium ion transport; ephrin receptor signaling pathway; membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; negative regulation of apoptosis; Notch receptor processing; Notch signaling pathway; positive regulation of apoptosis; positive regulation of catalytic activity; protein processing; response to hypoxia

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