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