Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.[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 Sakai 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 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. More recently, fibrillin-3 was described and is believed to be located mainly in the brain.[4] Along with in the brain, fibrillin 1 has been localized in the gonads and ovaries of field mice.

Protein

FBN1 or Fibrillin 1

connective tissue protein fibrillin-1.

It is caused by a mutation in the gene for fibrillin-1 on chromosone 15. A variable disorder of the connective tissue that effects many organ systems including the skeleton.eyes,heart,lungs and blood vessels.