[肌强直性营养不良蛋白激酶]
[Myotonin protein kinase].
作者信息
Ishiura S, Sasagawa N, Saitoh N, Koike H, Sorimachi H, Suzuki K, Shimokawa M, Usuki F, Nakase H, Kamakura K
机构信息
Institute of Molecular and Cellular Biosciences, University of Tokyo.
出版信息
Rinsho Shinkeigaku. 1995 Dec;35(12):1482-3.
The mutation underlying myotonic dystrophy is the expansion of polymorphic CTG repeat in the 3'-noncoding region of the myotonin protein kinase (MtPK) gene mapping to chromosome 19q13.3. A full-length cDNA of human MtPK was cloned and expressed in COS-1 cells. MtPK is recovered from the COS cell extract as a 70 kDa protein, which coincides with the size deduced from the predicted amino acid sequence. Biochemical characteristics of MtPK expressed in COS cells and its expression are investigated.
强直性肌营养不良的潜在突变是位于19号染色体长臂1区3带（19q13.3）的肌强直性蛋白激酶（MtPK）基因3'-非编码区多态性CTG重复序列的扩增。克隆了人MtPK的全长cDNA并在COS-1细胞中表达。从COS细胞提取物中回收的MtPK是一种70 kDa的蛋白质，这与根据预测的氨基酸序列推导的大小一致。对在COS细胞中表达的MtPK的生化特性及其表达进行了研究。
Zotero 插件