EPM2A Polyclonal Antibody

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.

Epilepsy progressive myoclonus type 2 Lafora disease (laforin), Epilepsy progressive myoclonus type 2A Lafora disease (laforin), EPM2, Epm2a, Epm2a gene, EPM2A, Lafora PTPase, Laforin, LAFPTPase, LD, LDE, MELF, RP3-466P17.2