Rabbit Monoclonal Antibody to PEN2

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]