FBN1

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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 ?
Mice carrying mutation in the gene coding for fibrillin-1, a structural component of the extracellular matrix microfibrils, were generated by crossing mice from the already established [ApoE.sup.-/-] and C1039G lines.
In a few cases localized fibrillin-1 (FBN1) mutation has been identified in the 15q21.1 region.
De Paepe, "Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome," JAMA Internal Medicine, vol.
MFS was caused by fibrillin-1 (FBN1) gene mutations (NM_000138), which is located on chromosome 15q21.1 and had 65 exons.
FBN1 encodes fibrillin-1 and ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2) encodes a glycoprotein of unknown function.
It is caused by pathogenic variants in FBN1 that encodes Fibrillin-1, a major element of the extracellular matrix, and connective tissue throughout the body [2].
Marfan syndrome (MFS) is a connective tissue disorder comprising multiple organ manifestations caused by a mutation in the gene FBN1 that codes for the protein, fibrillin-1 [1].
It is caused by the mutation of fibrillin-1 (FBN1) gene encoding fibrillin-1, which plays important roles in systemic connective tissues and has an integral role in maintaining ocular health [1, 2].
Previous studies also revealed that plasma asprosin upregulation by the overexpression of its encoding gene, fibrillin-1, in WAT seemed unique to the pathogenesis of IR [8].
Those who are affected by Marfan syndrome have a mutation in the protein Fibrillin-1, which affects the body's connective tissue, giving people with this mutation the ability to bend in all different directions.
Marfan syndrome arises out of mutation in the fibrillin-1 gene (FBN1) encoding the elastic fibers, a major component of connective tissue.
Homology modeling of fibrillin-1 in the 909-1069 amino acid region was made with the program MODELLER (9v10) (8), using as the template the structure of the calcium-bound fragment (residues 1486-1647) of the same protein (Protein Data Bank, PDB, entry 1UZK), according to the sequence alignment shown in (Fig.