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D065636Level 9

Myotonin-Protein Kinase

**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.

**Tree numbers:** - D08.811.913.696.620.682.700.576 - D12.776.476.563.576

**Synonyms:** - MDGP Protein - Myotonic Dystrophy Protein Kinase - DM1PK Protein - MDPK Protein - DM Protein Kinase - DMPK Protein - DM-Kinase

GET/api/v1/systems/mesh/nodes/D065636
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