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For Research Use Only. Not For Clinical Use.
Background
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.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Distal tubular cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3.
Molecular function
Hydrolase
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