XB-FEAT-951522
pnkd
This is the community wiki page for the gene pnkd please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
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]
nomenclature changes
06012.2018
Human name has changed for Entrez Gene: 25953. From paroxysmal nonkinesigenic dyskinesia to PNKD, MBL domain containing
Also known as MR1; PDC; DYT8; FPD1; MR-1; BRP17; PKND1; PNKD1; FKSG19; TAHCCP2; KIPP1184