PNKD
Function
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
Involvement in disease
Dystonia 8
DYT8
A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
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.
Cellular localization
- Isoform 1
- Membrane
- Peripheral membrane protein
- Isoform 2
- Cytoplasm
- Nucleus
- Isoform 3
- Mitochondrion
Alternative names
KIAA1184, MR1, TAHCCP2, FKSG19, UNQ2491/PRO5778, PNKD, Probable hydrolase PNKD, Myofibrillogenesis regulator 1, Paroxysmal nonkinesiogenic dyskinesia protein, Trans-activated by hepatitis C virus core protein 2, MR-1