DMPK
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.
| Full Name | DM1 protein kinase |
| Gene ID | Human: 1760 Mouse: 13400 Rat: 308405 Monkey: 715328 |
| UniProt ID | Human: Q09013 Mouse: P54265 Rat: D3ZYV4 |
| Alternative Names | DM; DM1; DMK; MDPK; DM1PK; MT-PK;myotonin-protein kinase;DM protein kinase;dystrophia myotonica protein kinase;myotonic dystrophy associated protein kinase;myotonin protein kinase A;thymopoietin homolog |
Product List
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- Product Category:
- Membrane Protein Stable Cell Lines
- Target Protein: DMPK Target Family: Kinases/Enzyme Drug Discovery Assays and Products Target Protein Species: Human Host Cell Type: SAOS-2; CHO-K1; HEK293
