(Transglutaminase 3 (E Polypeptide, Protein-Glutamine-gamma-Glutamyltransferase) (TGM3))
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008].
Ü Basmanav, Cau, Tafazzoli, Méchin, Wolf, Romano, Valentin, Wiegmann, Huchenq, Kandil, Garcia Bartels, Kilic, George, Ralser, Bergner, Ferguson, Oprisoreanu, Wehner, Thiele, Altmüller, Nürnberg, Swan et al.: "Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. ..." in: American journal of human genetics, Vol. 99, Issue 6, pp. 1292-1304, (2016) (PubMed).
Yamane, Fukui, Sugimura, Itoh, Alea, Thomas, El Alaoui, Akiyama, Hitomi: "Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles." in: The FEBS journal, Vol. 277, Issue 17, pp. 3564-74, (2010) (PubMed).
Uemura, Nakanishi, Kato, Saito, Nagino, Hirohashi, Kondo: "Transglutaminase 3 as a prognostic biomarker in esophageal cancer revealed by proteomics." in: International journal of cancer, Vol. 124, Issue 9, pp. 2106-15, (2009) (PubMed).