Profil protéine

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. 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.

Alternative names and synonyms associated with DMPK

• DM1 protein kinase (DMPK) anticorps
• dystrophia myotonica-protein kinase (Dmpk) anticorps
• DM1 protein kinase (Dmpk) anticorps

• DM anticorps
• DM1 anticorps
• DM1PK anticorps
• Dm15 anticorps
• DMK anticorps
• Afficher tous les alias de synonymes
• DMPK anticorps
• MDPK anticorps
• MT-PK anticorps

Protein level used designations for DMPK

dystrophia myotonica-protein kinase , myotonic dystrophy protein kinase , myotonin-protein kinase-like , DM protein kinase , DM-kinase , DM1 protein kinase , myotonic dystrophy associated protein kinase , myotonin protein kinase A , myotonin-protein kinase , thymopoietin homolog , dystrophia myotonica kinase, B15