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 ?
Familial occurrence of typical and severe lethal congenital contractural arachnodactyl caused by missplicing of exon 34 of fibrillin-2.
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.
Key Words: congenital contractural arachnodactyly, Beals syndrome, "crumpled ear," fibrillin-2 protein
4) The gene (5q 23-31) that codes for the defective connective tissue component, fibrillin-2 protein, has been discovered to be mutated in Beals.
Fibrillin-2 defects impair elastic fiber assembly in a homocysteinemic chick model.
9,10) Genetic linkage studies conducted by Lee et a1 (9) revealed that CCA is caused by a defect in the fibrillin-2 (FBN2) gene, mapped to chromosome 5q23-31.
Wang M, Clericuzio CL, Godfrey M: Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
Mariencheck MC, Davis EC, Zhang H, et al: Fibrillin-I and fibrillin-2 show temporal and tissue-specific expression in developing elastic tissues.
Putnam EA, Zhang H, Ramirez F, et al: Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.