Analysis of NOTCH2 Gene (Mutation) in Hereditary Breast Ovarian Cancer Syndrome by RT-qPCR (CAT#: STEM-MT-0134-LGZ)

Introduction

Also known as: hN2; AGS2; HJCYS
This gene encodes a member of the Notch family. Members of this type 1 transmembrane protein family share common structural features, including an extracellular domain composed of multiple epidermal growth factor-like (EGF) repeats and an intracellular structure composed of multiple distinct domain types area. Members of the Notch family play roles in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically neighboring cells. In Drosophila, the interaction of notch with its cell-binding ligand (delta, serrate) establishes intercellular signaling pathways that play key roles in development. Homologues of these Notch ligands have also been found in humans, but the exact interactions between these ligands and human Notch homologues remain to be determined. The protein breaks down in the trans-Golgi network and is presented as a heterodimer on the cell surface. The protein acts as a receptor for membrane-bound ligands and may play a role in blood vessel, kidney, and liver development. Two transcript variants of this gene have been found to encode different isoforms.