EC Number |
Protein Variants |
Reference |
---|
2.7.1.28 | C404A |
the mutant shows reduced activity compared to the wild type enzyme |
730035 |
2.7.1.28 | G445S |
naturally occuring mutation and site-directed mutagenesis, almost inactive mutant |
758623 |
2.7.1.28 | H221A |
inactive |
730035 |
2.7.1.28 | K204A |
the mutant shows reduced activity compared to the wild type enzyme |
730035 |
2.7.1.28 | more |
analysis of bi-allelic TKFC variants from two families, DNA sequence determinations and analysis, and phenotypic analyses of genetic variants, detailed overview. Utility of genome sequencing and data sharing in the identification of an inborn error of metabolism |
758623 |
2.7.1.28 | more |
construction of Tk-null models to study the biological significance of the GA branch point in fructose metabolism, overview |
759025 |
2.7.1.28 | more |
construction of TK-null models to study the biological significance of the GA branch point in fructose metabolism. Deletion of TK nearly doubles the rate of fructose oxidation, but not the rate of lactate secretion. Analysis of glyceraldehyde metabolism in wild-type and TK knockout primary hepatocytes in minimal medium, overview. Enzyme TK deficiency sensitizes cells to fructose toxicity. TK-deficient mice develop fructose avoidance. Tk deficiency reduces hepatic triglyceride accumulation |
-, 759025 |
2.7.1.28 | R543I |
naturally occuring mutation and site-directed mutagenesis, almost inactive mutant |
758623 |
2.7.1.28 | S446A |
the mutant shows reduced activity compared to the wild type enzyme |
730035 |
2.7.1.28 | T112A |
the mutant shows reduced activity compared to the wild type enzyme |
730035 |