FBN2


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Related to FBN2: FBN3

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.

Molecular pathology
FBN2 mutations cause congenital contractural arachnodactyly.
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.