FBN3 gene

The FBN3 gene (FBN3 stands for fibrillin 3) is a protein-coding gene located on chromosome 19p13.2. An important paralog of this gene is FBN2.

The FBN3 gene encodes a member of the fibrillin protein family. Fibrillins are molecules of the extracellular matrix. Its protein product is a structural component that forms part of the extracellular microfibrils in the skin, lungs, kidneys, and skeletal muscles.

Diseases associated with FBN3 include

• Acromicric dysplasia
• Weill-Marchesani syndrome
• Geleophysical dysplasia
• Bardet-Biedl syndrome ( Wang Y et al. (2017)
• Marfan syndrome
• Congenital contractural arachnodactyly
• Klippel-Trénaunay syndrome
• Conjunctival degeneration

Findings regarding fibrillin gene expression and its role in cancer have so far been unclear in terms of their pathogenic significance. It has been shown that increased expression of the FBN1 and FBN2 genes in various cancers—such as lung, colorectal, ovarian, ductal pancreatic, esophageal, and thyroid cancers—correlates with patient survival. However, there are also conflicting findings, as hypermethylated FBN promoters with lower levels of gene expression have been detected in some other types of cancer (Mahdizadehi M et al. 2023).

1. Mahdizadehi M et al. (2023) The Role of Fibrilins in Human Cancer: A Narrative Review. Health Sci Rep 6:e1434.
2. Wang Y et al. (2017) The FBN3 gene is involved in the pathogenesis of a Chinese family with Bardet-Biedl syndrome. Oncotarget 8:86718–86725.