TGFBR2
The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. The transforming growth factor-beta family of polypeptides (TGF-beta1-3) are involved in the regulation of cellular processes, including division, differentiation, motility, adhesion and death. TGF-β-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio- skeletal phenotype in patients. The mutation 1524G–>A in TGFBR2 (causing the synonymous amino acid substitution Q508Q) resulted in abnormal splicing and segregated with MFS2. The D446N is characterized by severe cardiovascular disease and skeletal involvement. The M425V and R460H mutations were identified in two familial, autosomal dominant MFS.
