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Antibody detects endogenous levels of total DMPK.
DMPK is a serine/threonine kinase expressed in various muscle and nerve tissues. Mutations in the untranslated region of the DMPK gene are a characteristic of myotonic dystrophy. 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 5-37 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.
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蛋白别名: DM protein kinase; DM-kinase; DM1 protein kinase; DMK; DMPK; dystrophia myotonica-protein kinase; MT-PK; myotonic dystrophy associated protein kinase; Myotonic dystrophy protein kinase; myotonin protein kinase A; Myotonin-protein kinase; thymopoietin homolog
基因别名: DM; DM1; DM1PK; DMK; DMPK; MDPK; MT-PK
UniProt ID: (Human) Q09013
Entrez Gene ID: (Human) 1760