Gene Symbol | PNKD |
Entrez Gene ID | 25953 |
Full Name | paroxysmal nonkinesigenic dyskinesia |
Synonyms | BRP17,DYT8,FKSG19,FPD1,KIPP1184,MR-1,MR1,PDC,PKND1,PNKD1,TAHCCP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3) |