The TNXB gene encodes tenascin-X (TNX), a glycoprotein in the extracellular matrix (ECM) belonging to the tenascin family. TNX plays a critical role in ECM organization, particularly in regulating collagen fibrillogenesis and maintaining tissue integrity. It is highly expressed in connective tissues, including skin, tendons, and blood vessels. TNX deficiency, caused by mutations in TNXB, is linked to Ehlers-Danlos syndrome (EDS), a group of disorders characterized by hyperelastic skin, joint hypermobility, and tissue fragility. Specifically, TNXB mutations are associated with classical-like EDS and autosomal recessive forms of the condition.
Antibodies targeting TNX are essential tools for studying its expression, localization, and functional interactions. They are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to assess TNX levels in tissue samples or cell cultures. In research, TNXB antibodies help elucidate mechanisms underlying ECM dysregulation in connective tissue disorders and potential therapeutic strategies. Additionally, TNX autoantibodies have been identified in autoimmune conditions, such as autoimmune Addison’s disease, suggesting a role in immune-mediated tissue damage. Recent studies also explore TNX's involvement in cancer progression, where ECM remodeling influences tumor invasiveness and metastasis. Overall, TNXB antibodies serve as vital reagents for both diagnostic and investigative applications in genetic, autoimmune, and oncological research.