Analysis of TGFB2 Gene (Mutation) in Loeys-Dietz Syndrome 4 by RT-qPCR (CAT#: STEM-MT-0182-LGZ)

Introduction

Also known as: LDS4; G-TSF; TGF-beta2<br />This gene encodes a secreted ligand for the tgf-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-β receptors, leading to the recruitment and activation of SMAD family transcription factors, which regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and exists in a latent form consisting of a mature peptide homodimer, a LAP homodimer, and a latent TGF-β-binding protein, or in an active form consisting only of mature peptide homodimers. The mature peptide may also form heterodimers with other TGF-β family members. Disruption of the TGF-β/SMAD pathway is associated with a variety of human cancers. Chromosomal translocations that include this gene have been associated with Peters anomaly, a congenital defect of the anterior chamber. Mutations in this gene may be associated with Lois-Dietz syndrome. This gene encodes multiple isoforms that likely undergo similar proteolytic processes.