PEN2 Rabbit Polyclonal Antibody

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.