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Protein Page:
PNKD (human)

PNKD Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway. Defects in PNKD are the cause of dystonia type 8 (DYT8). 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. Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.-.-.-; Hydrolase
Chromosomal Location of Human Ortholog: 2q35
Cellular Component: membrane; mitochondrion
Reference #:  Q8N490 (UniProtKB)
Alt. Names/Synonyms: brain protein 17; BRP17; DKFZp564N1362; DYT8; FKSG19; FPD1; KIAA1184; KIPP1184; MGC31943; MR-1; MR1; Myofibrillogenesis regulator 1; paroxysmal nonkinesigenic dyskinesia; Paroxysmal nonkinesiogenic dyskinesia protein; PDC; PNKD; Probable hydrolase PNKD; TAHCCP2; Trans-activated by hepatitis C virus core protein 2
Gene Symbols: PNKD
Molecular weight: 42,876 Da
Basal Isoelectric point: 9.22  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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