35 – Fibrillin-1

Publisher Summary This chapter focuses on the structure and function of glycoprotein fibrillin-1 (FBN1), which occurs as a major component of a subset of connective tissue microfibrils. These microfibrils have a beaded appearance and a cross-sectional diameter of 10–12 nm. In elastic tissues, these structures provide the scaffold onto which elastin is assembled to form elastic fibers, although their functional role in nonelastic tissues is unclear. The fibrillin transcribed from chromosome 15 has a molecular weight of approximately 312,000 and contains 2,871 amino acids. Its high cysteine content (14%) suggests that intrachain disulfide bonds are important in stabilizing the molecule. Five structurally distinct regions are delineated, the largest of which contains a series of cysteine-rich repeats. The chapter includes information on the gene structure and the structural and functional sites of FBN1.