FBN1


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Related to FBN1: Fibrillin, Marfan syndrome

FBN1

A gene on chromosome 15q21.1 that encodes fibrillin 1, a member of the fibrillin family, which is a large, extracellular matrix glycoprotein. Fibrillin 1 provides structural component of 10–12-nm calcium-binding microfibrils, which provide force-bearing support in elastic and nonelastic connective tissue throughout the body.

Molecular pathology
FBN1 mutations are associated with Marfan syndrome, ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome and Shprintzen-Goldberg craniosynostosis syndrome.
References in periodicals archive ?
5) The polymerase chain reaction (PCR), denaturing high-performance liquid chromatography (dHPLC) analysis and direct sequencing were carried out in order to perform mutation screening involving 65 exons in the FBN1 gene.
Fibrillin-2 is homologous to the FBN1 gene at both the nucleotide and amino acid levels; however, the tissue distribution and temporal expression of FBN2 are distinct from those of FBN1.
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, sequence variants in Marfan syndrome and related connective tissue disorders.