What is the function of the protein fibrillin?
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.
What is the role of fibrillin in the production of elastin?
In most tissues, fibrillin microfibrils associate with elastin to form elastic fibres and hence make key contributions to the elastic function of these tissues acting as a stiff reinforcer of elastin-containing tissues. Fibrillin microfibrils also provide limited elasticity in tissues devoid of elastin.
Is fibrillin a structural protein?
Introduction. Human fibrillin-1 is a 350 kDa calcium binding glycoprotein, which is a major structural component of 10–12 nm microfibrils located in the extracellular matrix of connective tissue [1]. Fibrillin-1 has a highly modular organisation typical of many extracellular proteins (Fig.
What do microfibrils do?
Microfibrils form elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. Microfibrils also provide support to more rigid tissues such as bones and the tissues that support the nerves, muscles, and lenses of the eyes.
What does fibrillin 1 do in the body?
Fibrillin-1 is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body.
What is the role of fibrillin in Marfan syndrome?
Marfan Syndrome The fibrillin-1 gene, also known as FBN1, is necessary for the production of fibrillin-1 monomers. A mutation of this gene prevents the formation of microfibrils, which results in abnormal connective tissues.
Why is fibrillin 1 Important?
Fibrillin 1 (FBN1) protein is an important component of both elastic and nonelastic connective tissues throughout the body. It is the main protein of a group of connective tissue microfibrils that are essential for normal elastic fibrillogenesis.
Is fibrillin a fibrous protein?
Fibrillins are one of the major components of supramolecular fibrous structures in the extracellular matrix of elastic and nonelastic tissues, termed microfibrils. It is also important to study the interactome of fibrillins by protein–protein interactions, which can be derailed in pathological situations.
Is fibrillin a type of collagen?
Tendon, a complex structure made of collagen fibers constituted by collagen type I and pericellular matrix (PCM) mainly made of elastic fibers (EF): fibrillin 1 and 2, elastin, collagen type VI and others.
What is fibrillin protein?
What proteins are affected in Marfan syndrome?
The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β.
What happens to the FBN1 gene in Marfan syndrome?
Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils.
What is the function of fibrillin 1 in the body?
Fibrillin 1 (FBN1) protein is an important component of both elastic and nonelastic connective tissues throughout the body.109 It is the main protein of a group of connective tissue microfibrils that are essential for normal elastic fibrillogenesis. In nonelastic tissues, the FBN1-containing microfibril functions as an anchoring fiber.
What is the role of fibrillin in elastic fiber assembly?
Fibrillin-1 is a connective tissue microfibril that regulates elastic fiber assembly, binds to latent TGF-β binding protein 1 (LTBP-1) and LTBP-4, and controls the bioactivity of TGF-β.
How is fibrillin-1 transported into the extracellular matrix?
This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, molecules of fibrillin-1 attach (bind) to each other and to other proteins to form threadlike filaments called microfibrils.
Which is fibrillin gene does MFS result from?
Fibrillin-1 is a ubiquitous protein and an essential component of the elastin-associated microfibrils in connective tissue. MFS results from mutations in the fibrillin-1 gene, FBN1, which encodes fibrillin-1. Molecular genetic testing of FBN1 detects 70%–93% of probands.