Fibrillin 1

Fibrillin 1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. Fibrillin 1 is essential for the formation of elastic fibers found in connective tissue.

Structure

Fibrillin 1 is a large, extracellular matrix glycoprotein with a molecular weight of approximately 350 kDa. It is composed of a series of repeating modules, including 43 calcium-binding epidermal growth factor-like (cbEGF) domains and 7 transforming growth factor beta-binding protein-like (TB) domains.

Function

Fibrillin 1 is a major component of microfibrils, which provide force-bearing structural support in elastic and non-elastic tissues. Microfibrils are found in many tissues including the aorta, ligaments, and the ciliary zonules of the eye, which suspend the lens.

Fibrillin 1 also regulates the availability of transforming growth factor beta (TGF-β), a protein that controls cell growth and differentiation.

Clinical significance

Mutations in the FBN1 gene are associated with several notable disease conditions. These include Marfan syndrome, a disorder affecting the body's connective tissue, and Weill-Marchesani syndrome, a rare disorder that affects the body's connective tissue and causes short stature, eye abnormalities, and joint stiffness.

See also

• Fibrillin
• Microfibril
• Marfan syndrome
• Weill-Marchesani syndrome

References

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