人类糖天冬酰胺酶基因定位于4q32 - q33。
Chromosomal localization of the human glycoasparaginase gene to 4q32-q33.
作者信息
Morris C, Heisterkamp N, Groffen J, Williams J C, Mononen I
机构信息
Department of Pathology, Christchurch School of Medicine, Christchurch Hospital, New Zealand.
出版信息
Hum Genet. 1992 Jan;88(3):295-7. doi: 10.1007/BF00197262.
Glycoasparaginase cleaves the N-glycosidic linkage between asparagine and N-acetylglucosamine in the degradation of glycoproteins. In humans, a deficient activity of glycoasparaginase results in accumulation of glycoasparagines, causing the lysosomal storage disease aspartylglycosaminuria. Recombinant plasmid containing the cDNA insert encoding human glycoasparaginase was used to localize the enzyme to chromosome 4q32-q33 by in situ hybridization to metaphase chromosomes prepared from normal human lymphocytes.
糖天冬酰胺酶在糖蛋白降解过程中可裂解天冬酰胺与N-乙酰葡糖胺之间的N-糖苷键。在人类中，糖天冬酰胺酶活性缺乏会导致糖天冬酰胺积累，从而引发溶酶体贮积病——天冬氨酰葡糖胺尿症。通过原位杂交技术，将含有编码人糖天冬酰胺酶的cDNA插入片段的重组质粒定位到由正常人淋巴细胞制备的中期染色体上，从而将该酶定位于4号染色体q32-q33区域。
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