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The Epilepsy, progressive myoclonus type 2A protein (EPM2A) is a dual-specificity phosphatase that associates with polyribosomes. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. EPM2A interacts with a number of proteins known to be involved in glycogen metabolism and has been shown to have robust phosphatase activity against a phosphorylated complex carbohydrate, suggesting that EPM2A may be involved in the regulation of glycogen metabolism.
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A; epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; EPM2A; EPM2A glucan phosphatase, laforin; EPM2A, laforin glucan phosphatase; glucan phosphatase; Glycogen phosphatase; Lafora PTPase; laforin; LAFPTPase; MELF; RP1-28C20.2; Tg(TcraK,TcrbK)TG-BFlv; TG-B
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