XB-FEAT-949800

dmpk

This is the community wiki page for the gene dmpk please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

01/12/2016

Human name has changed for Entrez Gene: 1760. From dystrophia myotonica-protein kinase to dystrophia myotonica protein kinase.

06/05/2017

Human name has changed for Entrez Gene: 1760. From dystrophia myotonica protein kinase to DM1 protein kinase

summary

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. [provided by RefSeq, Jul 2016]