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 (Paroxysmal Nonkinesigenic Dyskinesia) is a Protein Coding gene. Diseases associated with PNKD include Paroxysmal Nonkinesigenic Dyskinesia and Familial Paroxysmal Nonkinesigenic Dyskinesia. GO annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGH.
UniProtKB/Swiss-Prot 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.