Gene:
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Gene ID:
190421
Symbol:
EPM2A
Species:
1000
Description:
This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants.