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Related to FBN1: Fibrillin, Marfan syndrome
FBN1A gene on chromosome 15q21.1 that encodes fibrillin 1, a member of the fibrillin family, which is a large, extracellular matrix glycoprotein. Fibrillin 1 provides structural component of 10–12-nm calcium-binding microfibrils, which provide force-bearing support in elastic and nonelastic connective tissue throughout the body.
FBN1 mutations are associated with Marfan syndrome, ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome and Shprintzen-Goldberg craniosynostosis syndrome.