Catalog Number:

RA18004

Product Type:

Affinity Purified

Immunogen Sequence:

Peptide corresponding to residues surrounding amino acid 330 of human presenilin-2

Host:

Rabbit

Reactivity:

Human, Rat and Mouse

Applications:

Immunoprecipitation, Immunohistochemistry on paraffin sections, Immunocytochemistry, Western Blot

Description:

Presenilin-2 (PS2) is a catalytic 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). The other members of the gamma-secretase complex are required to have a protease activity. PS2 may play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane and may function in the cytoplasmic partitioning of proteins. Three causative genes have been identified that when mutated lead to presenile Alzheimer's disease: APP (amyloid precursor protein gene), PSEN1 and PSEN2. These three genes account for half of the families with autosomal dominant presenile AD, which represent approximately 10% of the whole AD population. In addition, apolipoprotein E has been identified as a risk-modifying locus. Defects in PSEN2 are the cause of Alzheimer disease type 4 (AD4). AD is an autosomal dominant neurodegenerative disorder characterized by progressive dementia, parkinsonism, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. Early onset AD is the most severe form of the disease, with complete penetrance and an onset occurring as early as 30 years of age. The second form is late-onset AD (LOAD), with mean age of onset greater than 58 years.

Reference:

Thinakaran G, and Parent AT Identification of the role of presenilins beyond Alzheimer's disease Pharmacol Res. 2004 Oct;50(4):411-8

Popescu BO, and Ankarcrona M. Mechanisms of cell death in Alzheimer's disease: role of presenilins. J Alzheimers Dis. 2004 Apr;6(2):123-8

Kimberly WT, Wolfe MS. Identity and function of gamma-secretase. J Neurosci Res. 2003 Nov 1;74(3):353-60