{"symbol":"PSEN2","synonyms":["AD3L","AD4","CMD1V","STM2","PS2"],"name":"presenilin 2","description":"Alzheimer\u0027s 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]","ncbiEntrezGeneId":5664,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5664","proteins":[{"symbol":"PSN2_HUMAN","href":"/api/1.0/protein/PSN2_HUMAN"}],"hgncRootFamilies":[]}