ALK5

ALK5 is a type of protein that is encoded in humans by the TGFBR1 gene. It is also known as Transforming Growth Factor Beta Receptor 1 (TGFBR1). This protein is a member of the serine/threonine protein kinase family and the TGF-beta receptor subfamily.

Function

The protein encoded by the TGFBR1 gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Marfan syndrome, Loeys-Dietz syndrome, and the development of various types of tumors. Its expression can be induced by glucocorticoids.

Clinical Significance

Mutations in the ALK5 gene have been associated with several diseases. For instance, mutations can cause Loeys-Dietz syndrome type 1A, which is a disorder characterized by arterial aneurysms, geographic tongue, and hypertelorism. Mutations can also cause Marfan syndrome, which affects the body's connective tissue and can impact the heart, eyes, blood vessels, and skeleton.

Research

Research into ALK5 has been extensive, particularly in the field of oncology. Some studies suggest that inhibiting ALK5 can suppress tumor growth and invasion, making it a potential target for cancer therapy.

See Also

• TGF beta signaling pathway
• TGF beta receptor
• Marfan syndrome
• Loeys-Dietz syndrome