Fibrillin-2

Fibrillin-2 is a protein that in humans is encoded by the FBN2 gene. It is a member of the fibrillin family, which plays a crucial role in the formation of microfibrils in the extracellular matrix of connective tissues.

Structure

Fibrillin-2 is a large, cysteine-rich, extracellular matrix glycoprotein. It is composed of multiple domains, including epidermal growth factor-like domains, transforming growth factor beta binding protein-like domains, and a unique hybrid domain at the N-terminus.

Function

Fibrillin-2 is essential for the formation of elastic fibers found in connective tissues. It provides a scaffold for elastin deposition and is involved in the regulation of organogenesis, tissue homeostasis, and cell adhesion.

Clinical significance

Mutations in the FBN2 gene are associated with Congenital Contractural Arachnodactyly, a rare genetic disorder characterized by contractures of major joints, arachnodactyly, and crumpled ears.

See also

• Fibrillin
• Fibrillin-1
• Congenital Contractural Arachnodactyly

External links

• FBN2 at the National Center for Biotechnology Information

This article is a stub related to proteins. You can help WikiMD by expanding it!

This article is a stub related to medicine. You can help WikiMD by expanding it!