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dmpk

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Official Full Name
dystrophia myotonica-protein kinase
Background
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 5-37 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.
Synonyms
DMPK; dystrophia myotonica-protein kinase; DM; DM1; DMK; MDPK; DM1PK; MT-PK; myotonin-protein kinase; DM-kinase; DM protein kinase; thymopoietin homolog; myotonin protein kinase A; myotonic dystrophy protein kinase; myotonic dystrophy associated protein kinase; EC=2.7.11.1; DM1 protein kinase; dystrophia myotonica 1; MT PK

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