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Gene : DMPK Homo sapiens

Name  ? DM1 protein kinase Cytological Location  19q13.32
Brief Description  DM1 protein kinase
description  The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
  • synonyms:
  • MDPK,
  • dystrophia myotonica protein kinase,
  • MDPK,
  • DM,
  • myotonic dystrophy associated protein kinase,
  • DMK,
  • dystrophia myotonica 1 (includes dystrophia myotonia protein kinase),
  • DM1PK,
  • uc002pdf.3,
  • MT-PK,
  • NM_004409,
  • DM1,
  • L19268,
  • myotonin protein kinase A,
  • DM protein kinase,
  • MT-PK,
  • OTTHUMG00000182334,
  • DMK,
  • DM1PK,
  • DMPK,
  • thymopoietin homolog,
  • dystrophia myotonica 1,
  • Myotonin-protein kinase,
  • DM1,
  • HGNC:2933,
  • DM
  • identifiers:
  • 1760,
  • ENSG00000104936,
  • DMPK

Genome feature

Region: gene ? Length: 12849  
Location: 19:45769709-45782557 reverse strand Cyto location: 19q13.32


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

18 Data Sets

34 Homologues

0 Located Features

90 Rna Seq Results