FBN2

(redirected from fibrillin-2)

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 ?
Starcher, "Fibrillin-2 defects impair elastic fiber assembly in a homocysteinemic chick model," The Journal of Nutrition, vol.
Various genes related to malignant development have been investigated in the tissue and bodily fluids of colorectal cancer patients including Fibrillin-2 (FBN2), MAL, septin 9 (SEPT9), tachykinin-1 (TAC1), nel-like type 1 (NELL1), cellular retinoic acid binding protein 1 (CRABP1), somatostatin (SST), eyes absent homolog 4 (EYA4), and Vimentin (VIM) [59, 61, 62].
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
Syndactyly was found both in mice lacking laminin alpha-5 chain gene and in mice null for fibrillin-2 gene.
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).
Familial occurrence of typical and severe lethal congenital contractural arachnodactyl caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 1996;59:1027-34.
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].
Fibrillins belong to the extracellular matrix proteins, which include 3 fibrillin isoforms (fibrillin-1, fibrillin-2, and fibrillin-3) and the latent transforming growth factor [beta]-binding proteins.