This invention provides a gene encoding human glucokinase mutant. The gene has a nucleotide sequence of SEQ ID NO: 2 or a nucleotide sequence identical to the above-identified nucleotide sequence except the open reading frame of position 487 to 1884 of the above-identified nucleotide sequence, wherein the open reading frame of the nucleotide sequence encodes the same amino acid sequence as the one encoded by the open reading frame of SEQ ID NO: 2. In addition, human glucokinase mutant encoded by the gene, a recombinant vector carrying the gene, a host comprising the recombinant vector , a pharmaceutical composition containing the same, a use thereof, and methods for treating and preventing diseases by using the same are provided. The human glucokinase mutant encoded by the gene of this invention has the higher activity than that of the wild type human glucokinase, and thus provides a new way of controlling the blood glucose or preventing and treating the disturbance of carbohydrate metabolism, especially preventing and treating diabetes.本發明提供了一種人葡萄糖激酶突變體編碼基因,其具有SEQ ID NO:2所示的核苷酸序列;或除前述核苷酸序列的第487位至第1884位的開放閱讀框外,其餘部分與前述核苷酸序列相同的核苷酸序列,並且該核苷酸序列的開放閱讀框與SEQ ID NO:2所示的核苷酸序列的開放閱讀框編碼相同的胺基酸序列。本發明還提供了由所述基因表達的人葡萄糖激酶突變體、攜帶所述基因的重組載體、含有該重組載體的宿主、含有它們的醫藥組合物,它們的應用以及使用它們預防和治療疾病的方法。本發明的基因所表達的人葡萄糖激酶突變體,其活性高於野生型人葡萄糖激酶,從而為控制血糖或預防和治療糖代謝紊亂,尤其是為預防和治療糖尿病提供了有力的新途徑。
