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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 10-12nm 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
Specifications
Specifications
| Antigen | FBN1 |
| Applications | ELISA, Immunohistochemistry (PFA fixed), Western Blot |
| Classification | Monoclonal |
| Clone | 3H6 |
| Conjugate | Unconjugated |
| Description | Mouse monoclonal antibody raised against a partial recombinant FBN1. |
| Formulation | PBS with no preservative; pH 7.4 |
| Gene | FBN1 |
| Gene Accession No. | NM_000138 |
| Gene Alias | FBN/MASS/MFS1/OCTD/SGS/WMS |
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