Tenascin X

Tenascin X is a protein that in humans is encoded by the TNXB gene. It is a member of the tenascin family, which are extracellular matrix proteins expressed at high levels during embryogenesis and in certain pathological conditions.

Function

Tenascin X is a large extracellular matrix protein that is thought to be involved in cell adhesion. It is expressed in a variety of tissues, including skin, joints, and blood vessels. Mutations in the TNXB gene can lead to a deficiency of Tenascin X, which is associated with certain connective tissue disorders, such as Ehlers-Danlos syndrome.

Structure

The Tenascin X protein is composed of multiple domains, including EGF-like repeats, fibronectin type III domains, and a fibrinogen-like domain. These domains are thought to mediate the protein's interactions with other extracellular matrix components and cells.

Clinical significance

Deficiency of Tenascin X is associated with a form of Ehlers-Danlos syndrome characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. This condition is caused by mutations in the TNXB gene that result in a nonfunctional Tenascin X protein.

File:Tenascin X.png

Structure of Tenascin X protein

Research

Research into Tenascin X is ongoing, with studies focusing on its role in tissue structure and function, as well as its potential involvement in other diseases, such as fibromyalgia and certain types of cancer.

See also

• Tenascin
• Ehlers-Danlos syndrome
• Extracellular matrix
• Protein structure

References

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