Analysis of BMPR2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1508-LGZ)

Introduction

Official Full Name: bone morphogenetic protein receptor type 2<br />Also known as: BMR2; PPH1; BMPR3; BRK-3; POVD1; T-ALK; BMPR-II<br />This gene encodes a member of the bone morphogenetic protein (BMP) receptor transmembrane serine/threonine kinase family. The ligands for this receptor are members of the TGF-β superfamily. BMP is involved in endochondral bone formation and embryogenesis. These proteins signal by forming a heterogeneous complex of two different types of serine (threonine) kinase receptors: type I receptors of approximately 50-55 kd and type II receptors of approximately 70-80 kd. Mutations in this gene have been associated with primary pulmonary hypertension (familial and fenfluramine-associated) and pulmonary veno-occlusive disease.