DMPK Rabbit Polyclonal Antibody

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. [provided by RefSeq, Jul 2016], catalytic activity:ATP + a protein = ADP + a phosphoprotein., cofactor:Magnesium., disease:Defects in DMPK are the cause of myotonic dystrophy 1 (DM1) [MIM:160900]; also known as Steinert disease. DM is an autosomal dominant neurodegenerative disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness, and cardiac arrhythmias. DM patients show decreased levels of kinase expression inversely related to repeat length. The minimum estimated incidence is 1 in 8'000 live births. DM1 is caused by a CTG expansion in the 3'-UTR of the DMPK gene. The repeat length usually increases in successive generations, but not always., enzyme regulation:Activated in response to G protein second messengers. Maintained in an inactive conformation by the negative autoregulatory C-terminal coiled-coil region. Coiled-coil mediated oligomerization correlated with enhanced catalytic activity as is proteolytical cleavage near the C-terminus., function:Critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity. Phosphorylates phospholamban., similarity:Belongs to the protein kinase superfamily., similarity:Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily., similarity:Contains 1 AGC-kinase C-terminal domain., similarity:Contains 1 protein kinase domain., tissue specificity:Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.