transglutaminases

What are the Clinical Implications of Transglutaminases?

Transglutaminases have significant clinical implications. For example, tissue transglutaminase (TG2) is an important autoantigen in celiac disease, an autoimmune disorder characterized by an immune response to gluten. Elevated levels of transglutaminase antibodies are used as a diagnostic marker for this disease. Moreover, mutations in transglutaminase genes can lead to various disorders, such as congenital ichthyosis, which is characterized by abnormal skin scaling. Understanding the role of transglutaminases in these conditions can help in developing targeted therapies.

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