蛋白名称
Myotonin-protein kinase
免疫原
The antiserum was produced against synthesized peptide derived from human DMPK. AA range:11-60
特异性
DMPK Polyclonal Antibody detects endogenous levels of DMPK protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
稀释比例
Western Blot: 1/500 - 1/2000. ELISA: 1/40000. Not yet tested in other applications.
纯化工艺
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
DMPK; DM1PK; MDPK; Myotonin-protein kinase; MT-PK; DM-kinase; DMK; DM1 protein kinase; DMPK; Myotonic dystrophy protein kinase
背景
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],
功能
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 mediate
