Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.

@article{Porzio2007MissenseMI,
  title={Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.},
  author={Ottavia Porzio and Ornella Massa and Veronica Cunsolo and Carla Colombo and Marinella Malaponti and F. Bertuzzi and Torben Hansen and Anders Straarup Johansen and Oluf Pedersen and Franco Meschi and Alessandro Terrinoni and Gerry Melino and Massimo Federici and N Decarlo and Michele Menicagli and Daniela Campani and Paolo Marchetti and Mourad Ferdaoussi and Philippe Froguel and Giorgio Federici and Martine Vaxillaire and Fabrizio Barbetti},
  journal={Human mutation},
  year={2007},
  volume={28 11},
  pages={1150}
}
Transglutaminase 2 (TG2 or TGM2) is a multi-functional enzyme which catalyzes transamidation reactions or acts as a G-protein in intracellular signalling. Tgm2-/- Mice lacking TG2 activity are glucose intolerant and show impairment of insulin secretion, suggesting an important physiological role for TG2 in the pancreatic beta cell. We have previously described a TGM2 heterozygous missense mutation ((c.998A>G, p.N333S) in a 14 year-old patient with insulin-treated diabetes and in his diabetic… CONTINUE READING

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