PSENEN Antibody – Rabbit Polyclonal

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]

PSENEN: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN/PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Belongs to the PEN-2 family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 19q13.12

Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; integral to plasma membrane; plasma membrane

Molecular Function: protein binding

Biological Process: positive regulation of catalytic activity; axon guidance; Notch signaling pathway; amyloid precursor protein catabolic process; membrane protein intracellular domain proteolysis; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; membrane protein ectodomain proteolysis; ephrin receptor signaling pathway; Notch receptor processing; protein processing

Disease: Acne Inversa, Familial, 2