Aliases for PNKD Gene
External Ids for PNKD Gene
Previous GeneCards Identifiers for PNKD Gene
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]
GeneCards Summary for PNKD Gene
PNKD (PNKD Metallo-Beta-Lactamase Domain Containing) is a Protein Coding gene. Diseases associated with PNKD include Paroxysmal Nonkinesigenic Dyskinesia 1 and Familial Paroxysmal Nonkinesigenic Dyskinesia. Gene Ontology (GO) annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGH.
UniProtKB/Swiss-Prot Summary for PNKD Gene
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.