Samiksha Jaiswal

Fibrillin

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Symbol  FBN1
Entrez  2200
OMIM  134797
Alt. symbols  FBN, MFS1, WMS
HUGO  3603
PDB  2W86
Fibrillin Assembly of fibrillin microfibrils governs extracellular deposition

Marfan s syndrome fibrillin defect


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.

Contents

Fibrillin Professor Penny Handford Research Group

Osteogenesis imperfecta fibrillin and elastin


Clinical aspect

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .

Fibrillin-1

Fibrillin JCI Determination of the molecular basis of Marfan syndrome a

Fibrillin-1 is a major component of the microfibrils that form a sheath surrounding the amorphous elastin. It is believed that the microfibrils are composed of end-to-end polymers of fibrillin. To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986, and mutations in the FBN1 gene cause Marfan syndrome.

Fibrillin www2biochoxacukhandfordlabLTBPsummarypng

This protein is found in humans, and its gene is found on chromosome 15. At present more than 1500 different mutations have been described.

Structure

Fibrillin Fibrillin controls TGFbeta activation Nature Genetics

There is no complete, high-resolution structure of fibrillin-1. Instead, short fragments have been produced recombinantly and their structures solved by X-ray crystallography or using NMR spectroscopy. A recent example is the structure of the fibrillin-1 hybrid2 domain, in context of its flanking calcium binding epidermal growth factor domains, which was determined using X-ray crystallography to a resolution of 1.8 Å. The microfibrils that are made up of fibrillin protein are responsible for different cell-matrix interactions in the human body.

Fibrillin-2

Fibrillin New method allows researchers to explore how fibrillin is assembled

Fibrillin-2 was isolated in 1994 by Zhang and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to Beal's Syndrome.

Fibrillin-3

Fibrillin Fibrillin1 microfibril deposition is dependent on fibronectin

More recently, fibrillin-3 was described and is believed to be located mainly in the brain. Along with the brain, fibrillin-3 has been localized in the gonads and ovaries of field mice.

Fibrillin-4

Fibrillin-4 was first discovered in zebrafish, and has a sequence similar to fibrillin-2.

References

Fibrillin Wikipedia


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