Fibrillin
Fibrillin
Fibrillin (pronounced: fi-bril-lin) is a glycoprotein, which is a type of protein that has sugar molecules attached. It is an essential component of microfibrils, a type of fiber found in connective tissue.
Etymology
The term "Fibrillin" is derived from the word "fibril", which in turn comes from the Latin word "fibra", meaning "fiber". The "-in" suffix is commonly used in biochemistry to denote proteins.
Function
Fibrillin is crucial for the formation and function of elastic fibers, which provide strength and flexibility to connective tissues. It is also involved in the regulation of TGF-beta, a protein that controls cell growth and division.
Related Terms
- Marfan syndrome: A genetic disorder affecting the body's connective tissue, often caused by mutations in the gene that instructs the body to make fibrillin.
- FBN1: The gene that provides instructions for producing fibrillin.
- Elastin: A protein that works with fibrillin to form elastic fibers.
Disorders Associated with Fibrillin
Mutations in the FBN1 gene can lead to a variety of disorders, including:
- Marfan syndrome: This disorder affects the body's connective tissue and can impact the heart, eyes, blood vessels, and skeleton.
- Weill-Marchesani syndrome: A rare genetic disorder characterized by short stature, eye abnormalities, and heart problems.
- Acromicric dysplasia: A rare type of short stature syndrome characterized by specific facial features and skeletal abnormalities.
External links
- Medical encyclopedia article on Fibrillin
- Wikipedia's article - Fibrillin
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