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 ?
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.
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.
In addition, researchers also evaluated the expression of procollagen type I, fibrillin-1, matrix metalloproteinase-1 (MMP-1) and -12, and ultraviolet (UV)-induced DNA damage in artificially UV-irradiated buttock skin before and after treatment.
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.
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
analyzed the effects of active ingredients from topical and systemic skin care formulations in vitro, finding that kinetin affected the upper dermis by enhancing deposits of fibrillin-1 and elastin fibers as well as their organization perpendicular to the dermal-epidermal junction.
MFS is mainly caused by mutations in the fibrillin-1 gene (FBN1) encoding for extracellular matrix protein fibrillin-1.
Increased expression of latent TGF-B binding protein-1 and fibrillin-1 in human uterine leiomyomata.
Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.
The Tsk mouse carries a heterogeneous mutation for the fibrillin-1 gene and rapidly exhibits the characteristic tight and thickened skin phenotype of scleroderma patients.
Regulation of fibrillin-1 by biglycan and decorin is important for tissue preservation in the kidney during pressure-induced injury.
Marfan syndrome (MFS) is an autosomal dominant disorder developing as a result of mutation of fibrillin-1 gene located on chromosome 15.