Overview:

DMPK (or Myotonic Dystrophy Protein Kinase) is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. DMPK protein has a leucine-rich domain at the N-terminus, a serine/threonine kinase domain in the middle, and a hydrophobic region at the C-terminus. The N-terminus of DMPK plays an important role in DMPK kinase activity, and the C-terminus of DMPK determines the intracellular localization of the protein (1). Myotonic dystrophy type 1 is an autosomal dominant disease caused by a trinucleotide repeat-expansion, cytosine-thymine-guanine (CTG)n, in the 3' untranslated region of DMPK (2).

Gene Aliases:

DM, DM1, DMK, MDPK, DM1PK, MT-PK

Genbank Number:

Q09013-16

References:

1. Sasagawa, N. et al: Overexpression of human myotonic dystrophy protein kinase in Schizosaccharomyces pombe induces an abnormal polarized and swollen cell morphology. J Biochem. 2003 Oct;134(4):537-42.

2. Salvatori, S. et al: Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurol Sci. 2005 Oct;26(4):235-42.