[Myotonin protein kinase].
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.
Ishiura
S
S
Institute of Molecular and Cellular Biosciences, University of Tokyo.
Sasagawa
N
N
Saitoh
N
N
Koike
H
H
Sorimachi
H
H
Suzuki
K
K
Shimokawa
M
M
Usuki
F
F
Nakase
H
H
Kamakura
K
K
D002888:Chromosomes, Human, Pair 19; D004247:DNA; D006801:Humans; D009154:Mutation; D009223:Myotonic Dystrophy / Q000209:etiology*; D065636:Myotonin-Protein Kinase; D011494:Protein Kinases / Q000235:genetics* / Q000378:metabolism; D017346:Protein Serine-Threonine Kinases; D018911:Trinucleotide Repeats
C585517:DMPK protein, human; D004247:DNA; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases