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Symbol DMPK contributors: mct/npt/shn - updated : 01-04-2016
HGNC name dystrophia myotonica-protein kinase
HGNC id 2933
  • mice expressing the CUG expansion in an unrelated mRNA develop myotonia and myopathy, and show abnormal tau expression in the brain
  • overexpression of the DMPK 3'-UTR including either wild-type (11) or expanded (91) CTG repeats results in aberrant and delayed muscle development in fetal transgenic mice, and mice display muscle atrophy at 3 months of age
  • overexpression of DMPK mRNA and protein transgene products in cardiac, skeletal and smooth muscles of transgenic murine line carrying approximately 25 extra copies of a complete hDMPK gene with all exons and an intact promoter region resulted in deficient exercise endurance, hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy
  • PLN is hypo-phosphorylated in SR vesicles from DMPK(-/-) mice compared with wild-type mice
  • mice overexpressing a normal DMPK 3' UTR mRNA reproduced cardinal features of myotonic dystrophy, including myotonia, cardiac conduction abnormalities, histopathology and RNA splicing defects in the absence of detectable nuclear inclusion
  • inductible DM1 mouse model misregulation of developmentally regulated alternative splicing events, myotonia, characteristic histological abnormalities, and increased CUGBP1 protein levels
  • Overexpression of DMPK induces cell rounding and apoptosis in myocytes
  • Overexpression of DMPK in HeLa cells or C2C12 myoblasts disrupts Lamin-A/C and Lamin-B1 localization and causes nuclear fragmentation, and depletion of DMPK disrupts nuclear envelope lamina