Full name: presenilin 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ACNINV3; AD3; FAD; PS-1; PS1; PSNL1; S182

Summary: 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, Aug 2008]

Expression: Ubiquitous expression in colon (RPKM 14.6), small intestine (RPKM 14.0) and 25 other tissues

Gene size: 87275bp

Exon count: 13