FBN1 is a gene that provides instructions for making a protein called fibrillin-1, which is essential for the formation of elastic fibers in connective tissues. These fibers are crucial for maintaining the structure and elasticity of various tissues, including skin, blood vessels, and ligaments.
Mutations in the FBN1 gene can lead to disorders such as Marfan Syndrome, characterized by tall stature, long limbs, and cardiovascular issues. Understanding FBN1 is vital for diagnosing and managing these genetic conditions, highlighting the importance of genetic research in healthcare.