fibrillin


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fi·bril·lin

(fī'bril-in), [MIM*134797]
A microfibrillar protein in connective tissue with a wide distribution in the body; molecular weight about 350,000. There is good evidence that Marfan syndrome is due to mutations of fibrillin.
[Mod. L. fibrilla, fibril, + -in]

fibrillin

[fibri′lin]
Etymology: L, fibrilla, small fiber
a major component of elastin-associated microfibrils. It is linked to Marfan's syndrome by findings of immunohistochemical studies and is associated with arachnodactyly, a disease similar to Marfan's syndrome.

fibrillin

An extracellular matrix protein, a major component of microfibrils associated with elastin fibres. People with MARFAN'S SYNDROME have abnormal fibrillin as a result of mutations of the FBN1 gene on chromosome 15.

Fibrillin

A protein that is an important part of the structure of the body's connective tissue. In Marfan's syndrome, the gene responsible for fibrillin has mutated, causing the body to produce a defective protein.
Mentioned in: Marfan Syndrome
References in periodicals archive ?
In order to investigate the possibility that a portion of MFS might be caused by mutations in other fibrillin genes, we scanned mutations in 11th, 22nd, 25th, 38th and 44th exons encoding several conserved domains of the FBN3 protein.
Fibrillin is one of the larger human proteins and is a major component of connective tissue.
It is important for parents to know that nothing that they did caused the fibrillin gene to mutate.
The clinical manifestations of the disease are varied because,, fibrillin is present in so many structures of the body.
Abnormal fibrillin leads to a weak-walled aorta, which can blow out under the increased stress that labor -- or any strenuous activity -- puts on this blood vessel.
A second study verified the efficacy of VERISOL on wrinkle reduction and synthesis of important dermal matrix components including type I collagen, elastin and fibrillin.
Moreover, Deglysome preserves the matrix integrity by activating the formation of collagen and fibrillin networks.
1) The cause of MFS is molecular defect in fibrillin gene on chromosome 15 and it can affect several organs, including the eyes, heart, skeleton, and blood vessels.
Changes in the function of airway smooth muscle are correlated with increased collagen and fibrillin deposition in the surrounding extracellular matrix [58].
46), (47) In BJHS, a non-pathogenic polymorphism occurs due to minor variations in the extracellular matrix genes, for example collagen, elastin, and fibrillin.
Fibrillin is the major protein in the zonules holding the lens in place.