機能Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
組織特異性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.
関連疾患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.
配列類似性Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
翻訳後修飾Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.
細胞内局在Cytoplasm. Nucleus; Mitochondrion and Membrane.