Transforming growth factor beta receptor

Transforming growth factor beta receptor (TGF-beta receptor) is a type of cell surface receptor that binds and responds to the transforming growth factor beta (TGF-beta), a multifunctional protein that regulates many aspects of cellular function, including cell growth, cell differentiation, apoptosis, and cell migration.

Structure[edit | edit source]

The TGF-beta receptor is a complex of two types of serine/threonine kinase receptors, known as type I and type II. Both types are transmembrane proteins with a cysteine-rich extracellular domain for ligand binding, a single transmembrane domain, and an intracellular domain with serine/threonine kinase activity.

Function[edit | edit source]

The primary function of the TGF-beta receptor is to transduce the TGF-beta signal from the cell surface to the interior of the cell. This is achieved through a process known as signal transduction, which involves a series of biochemical reactions that ultimately lead to a change in cell function.

When TGF-beta binds to the type II receptor, it causes the recruitment and activation of the type I receptor. The activated type I receptor then phosphorylates Smad proteins, which form a complex with Smad4 and translocate to the nucleus. In the nucleus, the Smad complex regulates the transcription of target genes, leading to changes in cell function.

Clinical significance[edit | edit source]

Mutations in the TGF-beta receptor can lead to various diseases. For example, mutations in the type II receptor are associated with Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysm and dissection. Mutations in the type I receptor are associated with Camurati-Engelmann disease.

In addition, the TGF-beta receptor plays a key role in cancer. Overexpression of the receptor can lead to increased TGF-beta signaling, which can promote tumor growth and metastasis. Conversely, loss of receptor function can lead to decreased TGF-beta signaling, which can result in uncontrolled cell growth and cancer.