LTBP2

Description

The LTBP2 gene encodes latent transforming growth factor beta binding protein 2, a crucial protein involved in the extracellular matrix (ECM). LTBP2 acts as a chaperone for transforming growth factor beta (TGF-beta), a family of signaling proteins essential for diverse cellular processes. LTBP2 binds to TGF-beta, regulating its activation and localization within the ECM. This intricate interplay influences cell growth, differentiation, and tissue repair. Defects in LTBP2 can disrupt these processes, leading to various developmental abnormalities and diseases.

Associated Diseases

• Marfan syndrome type 3
• Congenital contractural arachnodactyly
• Loeys-Dietz syndrome
• Osteogenesis imperfecta
• Aortic aneurysm
• Cardiovascular diseases

Did you know?

LTBP2 is involved in the formation of microfibrils, which are essential components of elastic fibers, providing elasticity and resilience to tissues like skin and blood vessels.