Fibrillin 1
Fibrillin 1
Fibrillin 1 (pronounced: fy-bri-lin one) is a protein that in humans is encoded by the FBN1 gene. It is a crucial component of connective tissues, a type of tissue that supports various structures in the body.
Etymology
The term "Fibrillin" is derived from the word "fibril", which refers to a small or slender fiber, and the number "1" signifies that it was the first identified member of the fibrillin family.
Function
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.
Clinical significance
Mutations in the FBN1 gene are associated with Marfan syndrome, Weill-Marchesani syndrome, and other related connective tissue disorders.
Related terms
- Fibrillin: A glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.
- Microfibril: A very fine fibril, or fiber-like strand, consisting of glycoproteins and cellulose.
- Marfan syndrome: A genetic disorder that affects the body's connective tissue.
- Weill-Marchesani syndrome: A rare genetic disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities.
See also
External links
- Medical encyclopedia article on Fibrillin 1
- Wikipedia's article - Fibrillin 1
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