FBN1
FBN1
FBN1 (/ˈefˈbiːˈenˈwʌn/), short for Fibrillin-1, is a protein that in humans is encoded by the FBN1 gene.
Etymology
The term "FBN1" is an abbreviation of "Fibrillin-1". The name "Fibrillin" is derived from the word "fibril", a term in cell biology for a long, thin structure in an organism. The "1" signifies that it is the first of its kind to be discovered and classified.
Function
Fibrillin-1 is a major component of microfibrils in the extracellular matrix of connective tissue. It provides force-bearing structural support in elastic and non-elastic connective tissue throughout the body.
Related Terms
- Marfan syndrome: A genetic disorder affecting the body's connective tissue, often caused by mutations in the FBN1 gene.
- Microfibrils: Small fibrils that provide structural support in connective tissue, composed in part by Fibrillin-1.
- Extracellular matrix: A three-dimensional network of extracellular macromolecules, such as collagen, enzymes, and glycoproteins, that provide structural and biochemical support to surrounding cells.
Genetic Mutations
Mutations in the FBN1 gene can lead to a variety of connective tissue disorders, including Marfan syndrome, Weill-Marchesani syndrome, and acromicric dysplasia. These disorders often involve problems with the eyes, skeletal system, and cardiovascular system.
See Also
External links
- Medical encyclopedia article on FBN1
- Wikipedia's article - FBN1
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