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(fī'bril-in), [MIM*134797]
A microfibrillar protein in connective tissue with a wide distribution in the body; molecular weight about 350,000. There is good evidence that Marfan syndrome is due to mutations of fibrillin.
[Mod. L. fibrilla, fibril, + -in]
Farlex Partner Medical Dictionary © Farlex 2012


An extracellular matrix protein, a major component of microfibrils associated with elastin fibres. People with MARFAN'S SYNDROME have abnormal fibrillin as a result of mutations of the FBN1 gene on chromosome 15.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005


A protein that is an important part of the structure of the body's connective tissue. In Marfan's syndrome, the gene responsible for fibrillin has mutated, causing the body to produce a defective protein.
Mentioned in: Marfan Syndrome
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
Immunohistochemical localization of fibrillin in human ocular tissues.
It has been studied that these patients do not carry a mutation in the Marfan syndrome gene FBN1 encoding fibrillin 1, but instead a defect of microfibrils which are important components of the extracellular matrix associated with fibrillin.12 This has been speculated to be associated with the dural ectasias seen in SIH patients and is thought to relate to alterations in the elastin component of the dura resulting in the dilation of the dural sac due to CSF pulsation.13 Some patients have also shown to have a personal or family history of early age spontaneous retinal detachment which suggests the presence of a connective tissue disorder affecting both, the dura and the retina.
The disorder results from molecular defects in the fibrillin genes, which are responsible for the impaired structural integrity of the skeletal, ocular, and cardiovascular system.
Underlying this inherited disease is a disorder of the fibrillin gene which results in defective fibrin and collagen production.
This vitamin is required for the formation of collagen fibers and other connective tissue components such as elastin, fibronectin, proteoglycans, the bone matrix and elastin-associated fibrillin (6).
This genetic disorder involves mutations of the fibrillin gene that lead to a diverse presentation of abnormalities in multiple organ systems.
Among the topics are cadherins, adherens junctions and desmosomes, integrins and focal contacts, receptor tyrosine phosphatases, Notch and Slit-Robo signaling, adhesive binding to collagen and fibrillin, and complex adhesive mechanisms involved in leukocyte migration and malaria.
The BBC's Horizon highlighted a study which showed the original cream, No7 Protect & Perfect Beauty Serum, stimulated the production of fibrillin, a protein that boosts skin's elasticity.
Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of anti-sense targeting sequence.