Myotonin-Protein Kinase

Myotonin-proteinkinas

Engelsk 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.

Svenska synonymer

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Engelska synonymer

Kinase, Myotonin-Protein — Myotonin Protein Kinase — DM Protein Kinase — Kinase, DM Protein — Protein Kinase, DM — MDPK Protein — Protein, MDPK — MDGP Protein — Protein, MDGP — Myotonic Dystrophy Protein Kinase — DM1PK Protein — Protein, DM1PK — DMPK Protein — Protein, DMPK — DM-Kinase — DM Kinase