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psenen

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Official Full Name
presenilin enhancer gamma secretase subunit
Background
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 Alzheimers 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]
Synonyms
PSENEN; presenilin enhancer gamma secretase subunit; PEN2; PEN-2; MDS033; MSTP064; gamma-secretase subunit PEN-2; presenilin enhancer 2 homolog; hematopoietic stem/progenitor cells protein MDS033; presenilin enhancer 2 homolog (C. elegans); zgc:109727; presenilin enhancer protein 2 homolog