FBN2

FBN2 is a gene that in humans encodes the protein fibrillin-2, a member of the fibrillin family. The fibrillins are extracellular matrix glycoproteins, which are secreted by cells and assembled into microfibrils in tissues. Fibrillin-2 is thought to be involved in microfibril assembly, and is predominantly expressed during embryonic development. Mutations in the FBN2 gene have been associated with Congenital Contractural Arachnodactyly, a rare genetic disorder.

Function

Fibrillin-2, the protein encoded by the FBN2 gene, is a member of the fibrillin family. The fibrillins are large extracellular matrix glycoproteins that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force-bearing support in elastic and nonelastic connective tissue throughout the body.

Clinical significance

Mutations in the FBN2 gene are associated with Congenital Contractural Arachnodactyly (CCA), also known as Beals syndrome. CCA is a rare genetic disorder characterized by contractures of major joints, arachnodactyly (long, slender fingers and toes), crumpled ears, and mild muscular hypoplasia. The disorder is similar to Marfan syndrome, but with more emphasis on muscle and skeletal anomalies.

See also

• Fibrillin
• Congenital Contractural Arachnodactyly
• Marfan syndrome

External links

• NCBI Gene
• Genetics Home Reference

FBN2 Resources
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