Short Description: 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]. More information related to gene Fibrillin 1.
Synonyms and alternative names related to Fibrillin 1
fibrillin 1 (FBN1)
fibrillin 1 (Fbn1)
ACMICD
AI536462
B430209H23
ECTOL1
FBN
FBN1
Fib-1
GPHYSD2
MASS
MFS1
OCTD
SGS
SSKS
Tsk
WMS
WMS2
Gene-IDs for different species
Protein level used designations for Fibrillin 1
fibrillin 1
MP340
fibrillin-1
fibrillin 15
fibrillin 1 (Marfan syndrome)
tight skin
Proteomics products related to Fibrillin 1 Gene
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