Anti-PEN2/PSENEN Antibody, clone 6J5O4, Rabbit Monoclonal

Recombinant fusion protein containing a sequence corresponding to amino acids 1-115 of human PEN2/PSENEN (Q9NZ42).

PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.

WB, IF/ICC

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]