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[Myotonin protein kinase]
S Ishiura1, N Sasagawa, N Saitoh
1Institute of Molecular and Cellular Biosciences, University of Tokyo.
Rinsho Shinkeigaku = Clinical Neurology
|December 1, 1995
Abstract:
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.