The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
BRAIN PROTEIN 17
Myofibrillogenesis regulator 1
Paroxysmal nonkinesiogenic dyskinesia protein
Probable hydrolase PNKD
Trans-activated by hepatitis C virus core protein 2
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only.
Involvement in disease
Defects in PNKD are the cause of dystonia type 8 (DYT8) [MIM:118800]. DYT8 is a paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.
Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.