Aliases for FBN1 Gene
External Ids for FBN1 Gene
Previous Symbols for FBN1 Gene
This gene encodes a member of the fibrillin family. The encoded protein 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for FBN1 Gene
FBN1 (Fibrillin 1) is a Protein Coding gene. Diseases associated with FBN1 include isolated ectopia lentis and geleophysic dysplasia 2. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is NPNT.
UniProtKB/Swiss-Prot for FBN1 Gene
Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.