DMPK1 Critical to the accentuation of cardiac contractility and to the aliment of able cardiac advice activity. Phosphorylates phospholamban. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. Homodimer. 13 isoforms of the animal protein are produced by another splicing. Note: This description may cover advice from UniProtKB.
The protein encoded by this gene is a serine-threonine kinase that is carefully accompanying to added kinases that collaborate with associates of the Rho ancestors of baby GTPases. Substrates for this agitator cover myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated arena of this gene contains 5-37 copies of a CTG trinucleotide repeat. Amplification of this ambiguous burden to 50-5,000 copies causes myotonic dystrophy blazon I, which increases in severity with accretion echo aspect archetype number. Echo amplification is associated with abstract of bounded chromatin anatomy that disrupts the announcement of genes in this region. Several alternatively spliced archetype variants of this gene accept been described, but the feature attributes of some of these variants has not been determined.
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