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C200782Level 8

DMPK wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human DMPK wild-type allele is located in the vicinity of 19q13.32 and is approximately 13 kb in length. This allele, which encodes myotonin-protein kinase protein, plays a role in protein kinase pathway-mediated regulation of the expression of muscle-specific genes. A heterozygous trinucleotide repeat expansion of (CTG)n in the 3-prime untranslated region of the gene is associated with myotonic dystrophy 1.

**Synonyms:** - DM - DM Protein Kinase Gene - DM1 - DM1 Protein Kinase wt Allele - DM1PK - DMK - Dystrophia Myotonica 1 (Includes Dystrophia Myotonia Protein Kinase) Gene - Dystrophia Myotonica 1 Gene - Dystrophia Myotonica Protein Kinase Gene - MDPK - MT-PK - Myotonic Dystrophy Associated Protein Kinase Gene - Myotonin Protein Kinase A Gene - Thymopoietin Homolog Gene

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