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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DMPK (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1760
Official gene symbolDMPK
Full namedystrophia myotonica-protein kinase
Aliases,DM,DM1,DM1PK,DMK,MDPK,MT-PK,
Gene summaryThe 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. [provided by RefSeq]
LocationChromosome: 19   Locus: 19q13.3
Gene position46285815 - 46272975  Map Viewer
Gene orientationminus
Gene size12841 bp
Gene sequence
OMIM ID605377