Description
Product Characteristics: EPM2A, epilepsy, progressive myoclonus type 2A, Lafora disease (laforin), EPM2, MELF, LAFPTPase, epilepsy, progressive myoclonus type 2, Lafora disease (laforin), glucan phosphatase, lafora PTPase
Target Information: 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. [provided by RefSeq, Jul 2008]