产品名称
PNKD Rabbit Polyclonal Antibody
基因名称
PNKD KIAA1184 MR1 TAHCCP2 FKSG19 UNQ2491/PRO5778
蛋白名称
Probable hydrolase PNKD (EC 3.-.-.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q8N490
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q8N490/entry
Mouse Swissprot No.
Q69ZP3
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q69ZP3
免疫原
Synthesized peptide derived from human protein . at AA range: 140-220
特异性
PNKD Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
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.
细胞定位
[Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion.
功能
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:Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3.,tissue specificity: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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
