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PNKD paroxysmal nonkinesigenic dyskinesia

Also known as: MR1; PDC; DYT8; FPD1; MR-1; BRP17; PKND1; PNKD1; FKSG19; TAHCCP2; KIPP1184

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]

Genomic context

Location:
2q35
Sequence:
Chromosome: 2; NC_000002.12 (218270392..218346793)
Total number of exons:
12

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