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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]
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.
fibrillinAn 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.
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