Analysis of PSEN2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0612-LGZ)

Introduction

Official Full Name: presenilin 2
Also known as: AD4; PS2; AD3L; STM2; CMD1V
Patients with hereditary Alzheimer's disease (AD) carry mutations in presenilin (PSEN1 or PSEN2) or amyloid precursor protein (APP). These disease-associated mutations lead to increased production of longer forms of amyloid-beta, the main component of the amyloid deposits found in Alzheimer's disease brains. Presenilin is thought to regulate APP processing through its action on γ-secretase, an enzyme that cleaves APP. In addition, presenilins are thought to be involved in the cleavage of Notch receptors, so they either directly regulate the activity of γ-secretase or are proteases themselves. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified.