FBN2 | definition of FBN2 by Medical dictionary
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FBN2 A gene on chromosome 5q23-q31 that encodes fibrillin 2, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly.
FBN2 mutations cause congenital contractural arachnodactyly.
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References in periodicals archive
On the first case, there was no gross chromosomal rearrangement on the long arm of chromosome 5, where the APC and FBN2
genes were located.
For example, the fibrillin-2 gene (FBN2
; MIM 121050) on human chromosome 5q23-q31 shares a high degree of homology with FBN1 (Mizuguchi and Matsumoto, 2007).
Beals syndrome has distinct features, however, and is caused by a mutation in the fibrillin-2 gene (FBN2
) in 5q23; Marfan syndrome is caused by mutations in fibrillin-1 [2-4].
Until congenital contractual arachnodactyly was proven to be caused by mutations in the gene that encodes FBN2
, contractual arachnodactyly and Marfan syndrome often were thought to be the same condition.