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myotonin protein kinase gene or myotonic dystrophy-1
19q13.3
Structure:
- contains trinucleotide repeat (CTG) in 3' untranslated region
Pathology:
- mutant gene in myotonic dystrophy 1
Related
myotonic dystrophy; Steinert disease; myotonia dystrophica
myotonin kinase (myotonic dystrophy-associated protein kinase, DMPK)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: myotonin kinase
MOTIF: transcription factor binding site
transcriptional start site
exon
MOTIF: trinucleotide repeat {3' untranslated region}
intron
transcriptional termination site
Database Correlations
Entrez Gene 1760
References
- Ross CA, McInnis MG, Margolis RL, Li SH.
Genes with triplet repeats: candidate mediators of
neuropsychiatric disorders.
Trends Neurosci. 1993 Jul;16(7):254-60. Review.
PMID: 7689767