TGFBR1

Description

The TGFBR1 gene (transforming growth factor beta receptor 1) encodes a protein that plays a crucial role in cell signaling pathways. TGFBR1 is a type I transmembrane receptor that binds to transforming growth factor beta (TGF-β), a family of cytokines involved in regulating a wide range of cellular processes, including cell growth, differentiation, apoptosis, and immune responses. Upon binding TGF-β, TGFBR1 activates downstream signaling pathways, ultimately leading to changes in gene expression and cellular behavior.

Associated Diseases

• Cancer (e.g., colorectal cancer, breast cancer, lung cancer)
• Fibrosis (e.g., pulmonary fibrosis, liver fibrosis)
• Congenital heart defects
• Marfan syndrome
• Loeys-Dietz syndrome

Did you know?

Mutations in the TGFBR1 gene can lead to a variety of disorders, including cancer and fibrosis.