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.

Mentioned in ?

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.

Case report of unusual presentation of marfanoid features in a 13-year-old boy with Gardner's syndrome

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).

Fibrillin 3 Gene Mutation in Chinese Patients with Marfan Syndrome

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].

A rare presentation of Beals syndrome; a newly recognized connective tissue disorder

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.