TGFBI : transforming growth factor beta induced
Transforming Growth Factor Beta Induced (TGFBI): A Vital Protein for Tissue Structure and Function
Description
The TGFBI gene is responsible for creating the transforming growth factor beta induced (TGFBI) protein. This protein acts as a key component of the extracellular matrix (ECM), a complex network that surrounds cells and provides structural support to tissues. TGFBI plays a crucial role in cell adhesion, the process by which cells attach to one another, and cell migration, which enables cells to move and remodel tissues.
Associated Diseases
Mutations in the TGFBI gene have been linked to several diseases, including:
- Corneal Dystrophies: A group of inherited eye disorders characterized by progressive clouding of the cornea. TGFBI mutations are associated with approximately 50% of corneal dystrophies.
- Lattice Corneal Dystrophy: A specific type of corneal dystrophy in which whitish lines appear on the surface of the cornea. TGFBI mutations account for 90% of cases.
- Mondini-Cassady Syndrome: A rare genetic disorder characterized by deafness, impaired vision, and developmental abnormalities. Mutations in TGFBI are the primary cause of this condition.
Did you Know ?
In the United States, approximately 1 in 10,000 people are affected by corneal dystrophies. Of these, a significant proportion can be traced to TGFBI mutations.
