Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FBN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2200
Official gene symbolFBN1
Full namefibrillin 1
Aliases,FBN,MASS,MFS1,OCTD,SGS,SSKS,WMS,
Gene summaryThis 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]
LocationChromosome: 15   Locus: 15q21.1
Gene position48937985 - 48700503  Map Viewer
Gene orientationminus
Gene size237483 bp
Gene sequence
OMIM ID134797