PSEN1, Official Symbol PSEN1provided by HGNC Official Full Name presenilin 1provided by HGNC Primary source HGNC:HGNC:9508 See related Ensembl:ENSG00000080815 MIM:104311; AllianceGenome:HGNC:9508 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AD3; FAD; PS1; PS-1; S182; PSNL1; ACNINV3 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 See more Orthologs mouse all