FBN1

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.

Clinical significance

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .

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