DMPK Products

Description

Dystrophia myotonica protein kinase is 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.

Bioinformatics

Entrez	1760 Human
Uniprot	AAH62553 Human NP_001075031 Human NP_004400 Human NP_004400.4 Human Q09013 Human
Product By Gene ID	1760
Alternate Names	DM1 DM1PK DMKEC 2.7.11.1 DM-kinase DMmyotonin protein kinase A dystrophia myotonica-protein kinase MDPKDM protein kinase MT-PKmyotonic dystrophy associated protein kinase Myotonic dystrophy protein kinase myotonin-protein kinase thymopoietin homolog

Research Areas for DMPK

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Protein Kinase