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EPM2A

Official Full Name
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Background
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.
Synonyms
EPM2A; epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); epilepsy, progressive myoclonus type 2, Lafora disease (laforin); laforin; LD; LDE; LAFPTPase; lafora PTPase; EPM2; MELF; dual-specificity phosphatase

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