Description
Transglutaminase 3 (TGM3), also known as transglutaminase E, TG (E) or epidermal transglutaminase, is expressed in the epidermis, and involved in the final differentiation of hair follicles and keratinocytes.
Transglutaminases are enzymes that catalyse cross-links between proteins. Eight human, calcium-dependent transglutaminases are known. Transglutaminase 3 (TGM3), also known as transglutaminase E, TG (E) or epidermal transglutaminase, is expressed in the epidermis, and involved in the final differentiation of hair follicles and keratinocytes. Mutations in the TGM3 gene lead among others to the uncombable hair syndrome or dermatitis herpetiformis (Duhring’s disease-DH). The latter syndrome is a skin disease from the group of blistering autoimmune dermatitis. Despite the conspicuous itchy blisters and nodules, celiac disease is one of the symptoms of DH. Celiac disease is a disease of the gastrointestinal tract, which is triggered by the consumption of gluten-containing foods. In patients suffering of celiac disease, the uptake of gliadin, a component of gluten, causes inflammation and destruction of the small intestinal mucosa. In addition, autoantibodies against transglutaminases are formed. For many years the detection of tissue transglutaminase (tTG) is used as standard procedure to diagnose gluten intolerance in patients. To help aid in the diagnosis of DH however, it has now been shown that TGM3 is an even more sensitive marker and can further improve diagnostics.