Fbn1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils present in all connective tissues and assembled into tissue-specific architectural frameworks. It is involved in the regulation of growth factor signaling, with its microfibrils playing a crucial role in the extracellular matrix [1].

Mutations in Fbn1 are the causative factor for Marfan syndrome, an inherited connective tissue disorder with features like tall stature, arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. Over a thousand individual mutations in Fbn1 are associated with Marfan syndrome, making genotype-phenotype correlations difficult. Moreover, mutations in specific regions can result in the opposite features seen in Weill-Marchesani syndrome and other acromelic dysplasias [1]. In liver fibrosis, MFAP2 promotes hepatic stellate cells (HSCs) activation through the Fbn1/TGF-β/Smad3 pathway [2].

In conclusion, Fbn1 is essential for the formation of fibrillin microfibrils in connective tissues and the regulation of growth factor signaling. Studies on Fbn1-related mutations have significantly contributed to understanding Marfan syndrome and other related genetic disorders, as well as its role in liver fibrosis [1,2].