Synthesized peptide derived from human protein . at AA range: 140-220

PNKD Polyclonal Antibody detects endogenous levels of protein.

PNKD KIAA1184 MR1 TAHCCP2 FKSG19 UNQ2491/PRO5778

Probable hydrolase PNKD (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2)

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],

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.,

[Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion.

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.