FBN1

(redirected from fibrillin-1)

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 ?
Degenerative processes of elastic fibers in sun-protected and sun-exposed skin: immunoelectron microscopic observation of elastin, fibrillin-1, amyloid P component, lysozyme and alpha1-antitrypsin.
Increased expression of latent TGF-B binding protein-1 and fibrillin-1 in human uterine leiomyomata.
Reasoning that if we could understand how a single point mutation in the fibrillin-1 (FBN1) protein causes skin fibrosis in Stiff Skin Syndrome (SSS), this would help us to understand the biological pathways involved in systemic sclerosis, a typically acquired, adult-onset autoimmune disease.
Marfan syndrome occurs due to a mutation of the fibrillin-1 gene.
Marfan syndrome (MFS) is an autosomal dominant disorder developing as a result of mutation of fibrillin-1 gene located on chromosome 15.
Panax ginseng L Roots Type-1 procollagen gene and (Araliaceae) protein expression, prevent MMP-9 gene induction, and elongated the fibrillin-1 fiber length Increase of expression of procollagen type 1 and decrease MMP-l 23.
Fibrillin-1 plays an important role as the building block for elastic tissue in the body.
For years, it was thought that deficiency of fibrillin-1 contributed to aneurysm formation because of poor structural integrity of the connective tissue in arterial walls.
The formation of cysteine-homocysteine disulfides has been suggested to disrupt the intramolecular disulfide bonds in fibrillin-1 (7).
A number of clues led Dietz and his team to strongly suspect a role for the connective tissue protein fibrillin-1 in these skin conditions.
Transmission of Marfan syndrome is as an autosomal dominant trait, and is caused by mutations in FBN1, the gene encoding the microfibrillar protein, fibrillin-1 [De Coster et al.
The latter is particularly intriguing because some SSc patients have anti-fibrillin autoantibodies and a duplication mutation in the fibrillin-1 gene is linked to the tight skin (Tsk) phenotype in a putative mouse model of scleroderma.