Dystrophia myotonica protein kinase encoded by DMPK 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 DMPK have been described, but the full-length nature of some of these variants has not been determined. 蛋白别名为:DMPK; DM1PK; MDPK; Myotonin-protein kinase; MT-PK; DM-kinase; DMK; DM1 protein kinase; DMPK; Myotonic dystrophy protein kinase;基因ID为:1760;蛋白质ID:Q09013
应用类型
WB,ELISA补充:最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, ELISA: 1:40000. Not yet tested in other applications.
免疫原
合成多肽:the N-terminal region of human DMPK. at AA rangle: 30-110