FBN3
Description
The FBN3 (fibrillin 3) is a protein-coding gene located on chromosome 19.
Fibrillin is a glycoprotein essential for the formation of elastic fibers found in connective tissue. It 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. Marfan syndrome is a genetic disorder of the connective tissue caused by defects in the FBN1 gene. Mutations in FBN1 and FBN2 are also sometimes associated with adolescent idiopathic scoliosis. There are three known forms of fibrillin. 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. The fibrillin-1 protein was isolated by Engvall in 1986, and mutations in the FBN1 gene cause Marfan syndrome. This protein is found in humans, and its gene is found on chromosome 15. At present, more than 1500 different mutations have been described.
Fibrillin-3 is a structural component of 10-12 nm extracellular calcium-binding microfibrils. These microfibrils can be found either in association with elastin or in elastin-free bundles. They provide long-term force-bearing structural support.
FBN3 is also known as -.
