FBN3

(redirected from fibrillin-3)

FBN3

A gene on chromosome 19p13 that encodes fibrillin 3, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly. FBN3 is highly expressed in foetal tissues; its protein product is localised to extracellular microfibrils of developing skin, lung, kidney and skeletal muscle.

Molecular pathology
FBN3 mutations may cause Weill-Marchesani syndrome.
References in periodicals archive ?
DENND1A gene in this locus was considered as a candidate gene based on its role in regulating the production of endoplasmic reticulum amino-peptidase-1, used for membrane trafficking.18 Most recent GWAS and meta-analysis of candidate genes showed significant association of two variants in the FBN3 gene with PCOS phenotype.19 FBN3 gene encodes fibrillin-3 protein.
Fibrillin-3 gene has been associated with Weill- Marchesani syndrome.
Keywords: Marfan syndrome, fibrillin-3, sequence analysis.
The fibrillin-3 (FBN3) gene exists on human chromosome 19p13 and shows high homology to other fibrillin family members (Nagase et al., 2001).
Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues.
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.
(8-10) In addition, a previous study identified one PCOS susceptibility allele in fibrillin-3 gene that is linked to and associated with hyperandrogenemia and markers of insulin resistance in PCOS women.
Identification of a PCOS susceptibility variant in fibrillin-3 and Assoc with metabolic phenotype.