Analysis of NOTCH1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1990-LGZ)

Introduction

Official Full Name: notch receptor 1
Also known as: hN1; AOS5; TAN1; AOVD1
This gene encodes a member of the NOTCH protein family. Members of this type I transmembrane protein family share common structural features, including an extracellular domain composed of multiple epidermal growth factor-like (EGF) repeats and an intracellular domain composed of multiple distinct domain types . Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically neighboring cells through the binding of Notch family receptors to their cognate ligands. The encoded preproprotein undergoes proteolytic processing in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form mature cell surface receptors. This receptor plays an important role in the development of many cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma.