Analysis of ENG Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1948-LGZ)

Introduction

Official Full Name: endoglin
Also known as: END; HHT1; ORW1
This gene encodes a homodimeric transmembrane protein, the major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex, which binds the beta 1 and beta 3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Lundu-Weber syndrome, an autosomal dominant multisystem vascular dysplasia. The gene may also be linked to preeclampsia and several types of cancer. Alternative splice transcript variants of this gene have been found to encode distinct isoforms.