FBN1
This gene is mutated in Marfan syndrome, and related disorders of connective tissues. The FBN1 gene produces a protein called fibrillin-1. Fibrillin becomes part of small threadlike filaments called microfibrils, which in turn help build elastic fibers. Elastic fibers are essential for the function of flexible structures such as blood vessels, the lungs, and skin.
FBN1 is a very large gene, and more than 300 mutations in it have been identified that can cause Marfan syndrome. Ultimately, a mutation can lead to weakened structural support in key structures such as blood vessels, heart valves, cartilage, and ligaments.
(MedicinePlus, 2013)
This gene is mutated in Marfan syndrome, and related disorders of connective tissues. The FBN1 gene produces a protein called fibrillin-1. Fibrillin becomes part of small threadlike filaments called microfibrils, which in turn help build elastic fibers. Elastic fibers are essential for the function of flexible structures such as blood vessels, the lungs, and skin.
FBN1 is a very large gene, and more than 300 mutations in it have been identified that can cause Marfan syndrome. Ultimately, a mutation can lead to weakened structural support in key structures such as blood vessels, heart valves, cartilage, and ligaments.
(MedicinePlus, 2013)