Search on: MYOTONIN-PROTEIN KINASE 
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Descriptor English:   Myotonin-Protein Kinase 
Descriptor Spanish:   Proteína Quinasa de Distrofia Miotónica 
Descriptor Portuguese:   Miotonina Proteína Quinase 
Tree Number:   D08.811.913.696.620.682.700.576
Definition English:   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. 
See Related English:   Myotonic Dystrophy
 
History Note English:   2015 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AN analysis AI antagonists & inhibitors
BI biosynthesis BL blood
CF cerebrospinal fluid CS chemical synthesis
CH chemistry CL classification
CT contraindications DF deficiency
DU diagnostic use DE drug effects
EC economics GE genetics
HI history IM immunology
IP isolation & purification ME metabolism
PK pharmacokinetics PD pharmacology
PH physiology PO poisoning
RE radiation effects SE secretion
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   55613 
Unique Identifier:   D065636 

Occurrence in VHL: 		 

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