Presku: | AAP37969 |
Size: | 100 ug |
Weight: | 21kDa |
Gene: | 2200 |
Format: | Lyophilized powder |
Target: | FBN1 is a member of the fibrillin family. FBN1 is a large, extracellular matrix glycoprotein that serve 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. |