Fbn1

Fbn1 (pronounced as F-B-N-One), also known as Fibrillin-1, is a protein that in humans is encoded by the FBN1 gene.

Etymology

The term "Fbn1" is an abbreviation for "Fibrillin-1". The term "Fibrillin" is derived from the Latin word "fibra", meaning "fiber", and the suffix "-in", which is used in biochemistry to denote a protein.

Function

Fbn1 is a member of the Fibrillin family and contributes to the formation of Microfibrils, which are essential components of the Extracellular matrix. These microfibrils provide force-bearing structural support in elastic and non-elastic connective tissue throughout the body.

Clinical significance

Mutations in the Fbn1 gene are associated with Marfan syndrome, a disorder affecting the body's connective tissue. Other related disorders include Weill-Marchesani syndrome, Acromicric dysplasia, and Geleophysic dysplasia.

See also

• Fibrillin
• Microfibrils
• Extracellular matrix
• Marfan syndrome
• Weill-Marchesani syndrome
• Acromicric dysplasia
• Geleophysic dysplasia

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