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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.
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Protein Aliases: Gamma-secretase subunit PEN-2; hematopoietic stem/progenitor cells protein MDS033; Liver regeneration-related protein LRRGT00140; LRRGT00140 mRNA; presenilin enhancer 2 homolog; presenilin enhancer gamma secretase subunit; Presenilin enhancer protein 2
Gene Aliases: 1700023M09Rik; MDS033; MSTP064; PEN-2; PEN2; PSENEN; RGD1312037
UniProt ID: (Human) Q9NZ42, (Mouse) Q9CQR7, (Rat) Q6QI68
Entrez Gene ID: (Human) 55851, (Mouse) 66340, (Rat) 292788
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