Scientific background: |
TGM1(Transglutaminase1), also known as Transglutaminase, Epidermal Type I or TGK is an enzyme that in humans is encoded by the TGM1 gene. By fluorescence in situ hybridization, Yamanishi et al. (1992) mapped the TGM1 gene to 14q11.2.The TGM1 gene encodes transglutaminase-1, a catalytic membrane-bound enzyme that functions in the formation of the epidermal cornified cell envelope, which acts as a mechanical barrier to protect against water loss and infectious agents. |
References: |
1. Farasat, S., Wei, M.-H., Herman, M., Liewehr, D. J., Steinberg, S. M., Bale, S. J., Fleckman, P., Toro, J. R. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J. Med. Genet. 46: 103-111, 2009.
2. Yamanishi, K., Inazawa, J., Liew, F.-M., Nonomura, K., Ariyama, T., Yasuno, H., Abe, T., Doi, H., Hirano, J., Fukushima, S. Structure of the gene for human transglutaminase 1. J. Biol. Chem. 267: 17858-17863, 1992.
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