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- W2091244665 abstract "Transglutaminase 2 (TG2) is a multifunctional member of an enzyme family: it modifies glutamine residues by cross-linking proteins and incorporating primary amines into them, has protein disulphide isomerase and protein kinase activities, mediates trans-membrane signal transduction and interactions between cell surface proteins and the extracellular matrix. These unusual multiple roles encoded into one polypeptide chain suggest that genomic variations in the TGM2 gene should be limited. Indeed, the available information in databases shows that unlike in the case of most other transglutaminases there are no common single nucleotide polymorphisms in exons of human TGM2. We collected data on and produced some of the rare genetic variants of TGM2 by site directed mutagenesis and found that some were less stable than the most abundant (wild type) enzyme variant and the majority had deficient transamidating activity. Further studies are required to clarify the pathologic significance of these rare TGM2 alleles in the human population." @default.
- W2091244665 created "2016-06-24" @default.
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- W2091244665 date "2011-12-13" @default.
- W2091244665 modified "2023-10-18" @default.
- W2091244665 title "Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions" @default.
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- W2091244665 doi "https://doi.org/10.1007/s00726-011-1194-6" @default.
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