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Concept information

Preferred term

Myotonin-Protein Kinase  

Type

  • mesh:Descriptor

Definition

  • Serine/threonine protein kinase responsible for various SKELETAL MUSCLE functions; HEART CONDUCTION SYSTEM activity; calcium HOMEOSTASIS; calcium uptake by SARCOPLASMIC RETICULUM and SYNAPTIC PLASTICITY. It is encoded by the DMPK gene and its abnormal EXPANDED TRINUCLEOTIDE REPEAT of CTG in the 3'-UTR is associated with MYOTONIC DYSTROPHY 1.

Synonym(s)

  • DM1PK Protein
  • DM-Kinase
  • DMPK Protein
  • DM Protein Kinase
  • MDGP Protein
  • MDPK Protein
  • Myotonic Dystrophy Protein Kinase

In other languages

  • French

  • DM Protein kinase
  • DM-Kinase
  • Myotonic dystrophy protein kinase
  • Myotonine protéine kinase
  • Protéine DM1PK
  • Protéine DMPK
  • Protéine kinase de la dystrophie myotonique
  • Protéine MDGP
  • Protéine MDPK

URI

http://data.loterre.fr/ark:/67375/JVR-SD308MMD-N

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RDF/XML TURTLE JSON-LD Created 6/26/14, last modified 5/21/21