Fibrillin-1
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.[5][6] It is a large, extracellular matrix glycoprotein that serves 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 altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.
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