Gene information for FBN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
| Entrez gene ID | 2200 |
| Official gene symbol | FBN1 |
| Full name | fibrillin 1 |
| Aliases | ,FBN,MASS,MFS1,OCTD,SGS,SSKS,WMS, |
| Gene summary | 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] |
| Location | Chromosome: 15 Locus: |
| Gene position | 48937985 - 48700503 Map Viewer |
| OMIM ID | 134797 |
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