The protein filaggrin is believed to have an important role in holding them together as tonofibrils. This protein is known to interact with intermediate filaments, specifically keratins. It is synthesized as a giant Precursor protein, profilaggrin (>400 kDA in humans).
Connective tissue disease. A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs.
The vascular type is a rare form of Ehlers-Danlos Syndrome. Mutations in the COL3A1 gene cause the Vascular Type of Ehlers-Danlos Syndrome. The protein made by the COL3A1 gene is used to assemble larger molecules called type III collagens.