FunctionProbable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
Tissue specificityIsoform 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 diseaseDefects 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.
Sequence similaritiesBelongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Post-translational modificationsIsoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.
Cellular localizationCytoplasm. Nucleus; Mitochondrion and Membrane.