TGFB1I1
Unveiling the Role of TGFBI1I1: A Gene with Far-Reaching Implications
Description:
TGFBI1I1, short for transforming growth factor beta-induced protein 1 isoform 1, is an intriguing gene that plays a crucial role in various cellular processes, including cell adhesion, migration, and differentiation. It encodes a protein known as TGFBIp, which acts as an extracellular matrix (ECM) component and interacts with other proteins and molecules to influence cell behavior.
Associated Diseases:
Mutations or dysregulation of the TGFBI1I1 gene have been linked to a spectrum of diseases, including:
- Corneal Dystrophies: Mutations in TGFBI1I1 can lead to corneal dystrophies, a group of inherited conditions that affect the cornea, the clear outer layer of the eye. These can range from mild visual disturbances to severe vision impairment.
- Glaucomatous Trabecular Meshwork Dysgenesis: TGFBI1I1 mutations have been identified in patients with glaucomatous trabecular meshwork dysgenesis, a developmental abnormality of the eye that can increase the risk of glaucoma, a leading cause of blindness.
- Retinal Diseases: Studies have shown an association between TGFBI1I1 polymorphisms and age-related macular degeneration (AMD), a common cause of vision loss in the elderly.
- Cancer: Aberrant TGFBI1I1 expression has been implicated in the development and progression of certain cancers, such as lung cancer and breast cancer.
Did you Know ?
A large-scale study estimated that genetic variations in the TGFBI1I1 gene contribute to approximately 20% of cases of keratoconus, a corneal disorder characterized by a cone-shaped cornea.
