The protein encoded by this gene is a serine-threoninenkinase that is closely related to other kinases that interact withnmembers of the Rho family of small GTPases. Substrates for thisnenzyme include myogenin, the beta-subunit of the L-type calciumnchannels, and phospholemman. The 3' untranslated region of thisngene contains 5-37 copies of a CTG trinucleotide repeat. Expansionnof this unstable motif to 50-5,000 copies causes myotonic dystrophyntype I, which increases in severity with increasing repeat elementncopy number. Repeat expansion is associated with condensation ofnlocal chromatin structure that disrupts the expression of genes innthis region. Several alternatively spliced transcript variants ofnthis gene have been described, but the full-length nature of somenof these variants has not been determined.
应用类型
WB
免疫原
This DMPK antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 11-39 amino acids from the N-terminal region of human DMPK.
