Fibrillin

Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.

Structure

Fibrillin is a large, extracellular matrix glycoprotein with a multidomain structure. It is composed of three types of repeating modules: epidermal growth factor-like (EGF-like) modules, transforming growth factor beta binding protein-like (TB) modules, and hybrid modules. The EGF-like modules contain six conserved cysteine residues, but unlike many EGF-like modules, most of these do not bind calcium.

Function

Fibrillin is a major building block of microfibrils, which provide force-bearing structural support in elastic and nonelastic tissues. Fibrillin microfibrils provide long-term force bearing structural support in elastic and nonelastic tissues. Fibrillin binds calcium and is coded by the FBN1 gene.

Clinical significance

Mutations in the FBN1 gene are associated with Marfan syndrome, Weill-Marchesani syndrome, and acromicric dysplasia. These are all heritable disorders affecting connective tissue.

See also

• Microfibril
• Marfan syndrome
• Weill-Marchesani syndrome
• Acromicric dysplasia

External links

• Fibrillin at WikiMD

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