The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.DMPK (Dystrophia Myotonica Protein Kinase) is a Protein Coding gene. Diseases associated with DMPK include Myotonic Dystrophy 1 and Myotonic Dystrophy. Among its related pathways are Cardiac conduction and G-protein signaling RAC1 in cellular process. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDC42BPB. Please contact our support expert at support@clementiabiotech.com for data sheet, manuals & quote.

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