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.
Fibrillin
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Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.[1]
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Types
Fibrillin-1
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,[2] and mutations in the gene have been linked to the Marfan syndrome. At present more than 100 different mutations have been described.
Fibrillin-2
Fibrillin-2 was isolated in 1994 by Zhang[3] 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
More recently, fibrillin-3 was described and is believed to be located mainly in the brain.[4] Along with the brain, fibrillin-1 has been localized in the gonads and ovaries of field mice.
References
- ^ Kielty CM, Baldock C, Lee D, Rock MJ, Ashworth JL, Shuttleworth CA (February 2002). "Fibrillin: from microfibril assembly to biomechanical function". Philos. Trans. R. Soc. Lond., B, Biol. Sci. 357 (1418): 207–17. doi:. PMID 11911778.
- ^ Sakai LY, Keene DR, Engvall E (1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". J. Cell Biol. 103 (6 Pt 1): 2499–509. doi:. PMID 3536967.
- ^ Zhang H, Apfelroth SD, Hu W, et al. (1994). "Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices". J. Cell Biol. 124 (5): 855–63. doi:. PMID 8120105.
- ^ Corson GM, Charbonneau NL, Keene DR, Sakai LY (March 2004). "Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues". Genomics 83 (3): 461–72. doi:. PMID 14962672.
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 | Elastic fiber (in medicine) |
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| Marfan syndrome: Diagnosis |
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