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.
Immunogen Information
Immunogen
Fusion protein of human EPM2A
Swissprot
O95278
Synonyms
Epilepsy progressive myoclonus type 2 Lafora disease (laforin)Epilepsy progressive myoclonus type 2A Lafora disease (laforin)EPM2Epm2aEpm2a geneEPM2ALafora PTPaseLaforinLAFPTPaseLDLDEMELFRP3-466P17.2