Reactive species
Human;Mouse
Antibody type
Polyclonal Antibody
Gene Name
PNKD KIAA1184 MR1 TAHCCP2 FKSG19 UNQ2491/PRO5778
Protein name
Probable hydrolase PNKD (EC 3.-.-.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2)
Immunogen
Synthesized peptide derived from human protein . at AA range: 140-220
Specificity
PNKD Polyclonal Antibody detects endogenous levels of protein.
Constitute
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010],
Function
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.,function:Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.,induction:By Hepatitis C virus core protein.,PTM:Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.,subunit:I
