PSENEN, Official Symbol PSENENprovided by HGNC Official Full Name presenilin enhancer, gamma-secretase subunitprovided by HGNC Primary source HGNC:HGNC:30100 See related Ensembl:ENSG00000205155 MIM:607632; AllianceGenome:HGNC:30100 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 PEN2; PEN-2; MDS033; ACNINV2; MSTP064 Summary Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in testis (RPKM 43.8), lung (RPKM 19.9) and 25 other tissues See more Orthologs mouse all