FBN1

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

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

Clinical significance
Mutations in FBN1 and is_associated_with::FBN2 are associated with adolescent idiopathic scoliosis.