The diverse effects of TGF-beta proteins (TGFBs) are mediated by the TGF-beta receptors (TGFBRs) and cell surface-binding proteins.
Transforming growth factor-beta proteins (TGFBs) are multifunctional cytokines known to modulate several tissue development and repair processes, including cell differentiation, cell cycle progression, cellular migration, adhesion, and extracellular matrix production. There are 3 forms encoded by separate genes: TGFB1 (MIM.190180), TGFB2 (MIM.190220), and TGFB3 (MIM.190230).
Members
type I TGF-beta receptor (TGFBR1) (MIM.190181)
type II (TFGBR2) (MIM.190182)
type III (TGFBR3)
Pathology
The endothelial cell-specific TGF-beta-binding protein, endoglin (ENG) (MIM.131195), is mutated in 1 form of hereditary hemorrhagic telangiectasia (HHT1) (MIM.187300).
Mutations in the genes encoding other TGF-beta-binding proteins may also lead to disease.
